Skin, hair, and nails

The skin is the largest organ in the body. A sizeable number of genetic disorders affect the skin, hair, and nails.

• A-T see ataxia-telangiectasia
• acne inversa see hidradenitis suppurativa
• Adamantiades-Behcet disease see Behçet disease
• Adult premature aging syndrome see Werner syndrome
• Adult Progeria see Werner syndrome
• adult Refsum disease see Refsum disease
• AEC syndrome see ankyloblepharon-ectodermal defects-cleft lip/palate syndrome
• AGS see Aicardi-Goutieres syndrome
• AH see autosomal recessive hypotrichosis
• Aicardi-Goutieres syndrome
• Albinism, Oculocutaneous see oculocutaneous albinism
• Albright-McCune-Sternberg syndrome see McCune-Albright syndrome
• Albright-Sternberg syndrome see McCune-Albright syndrome
• Albright Syndrome see McCune-Albright syndrome
• Albright's disease see McCune-Albright syndrome
• Alibert-Bazin syndrome see mycosis fungoides
• ALMS see Alström syndrome
• Alpha-fucosidase deficiency see fucosidosis
• Alström syndrome
• Amish brittle hair syndrome see trichothiodystrophy
• amyloid cranial neuropathy with lattice corneal dystrophy see lattice corneal dystrophy type II
• amyloidosis due to mutant gelsolin see lattice corneal dystrophy type II
• amyloidosis, Finnish type see lattice corneal dystrophy type II
• amyloidosis, Meretoja type see lattice corneal dystrophy type II
• amyloidosis V see lattice corneal dystrophy type II
• Ancell-Spiegler cylindromas see familial cylindromatosis
• androgenetic alopecia
• Androgenic alopecia see androgenetic alopecia
• Anhidrotic Ectodermal Dysplasia see hypohidrotic ectodermal dysplasia
• ankyloblepharon-ectodermal defects-cleft lip/palate syndrome
• ARD see Refsum disease
• arthrocutaneouveal granulomatosis see Blau syndrome
• ataxia-telangiectasia
• ATM see ataxia-telangiectasia
• autosomal recessive hypotrichosis
• Baller-Gerold syndrome
• Bannayan-Riley-Ruvalcaba syndrome
• Bannayan-Ruvalcaba-Riley syndrome see Bannayan-Riley-Ruvalcaba syndrome
• Bannayan-Zonana syndrome see Bannayan-Riley-Ruvalcaba syndrome
• Bart-Pumphrey syndrome
• basal cell nevus syndrome see Gorlin syndrome
• BCIE see epidermolytic hyperkeratosis
• BCNS see Gorlin syndrome
• Behçet disease
• benign pilomatricoma see pilomatricoma
• benign pilomatrixoma see pilomatricoma
• beta-sitosterolemia see sitosterolemia
• BGS see Baller-Gerold syndrome
• BHD see Birt-Hogg-Dubé syndrome
• BIDS syndrome see trichothiodystrophy
• BIE see epidermolytic hyperkeratosis
• BIOT see biotinidase deficiency
• biotinidase deficiency
• Birt-Hogg-Dubé syndrome
• Blau syndrome
• Bloch-Siemens-Sulzberger Syndrome see incontinentia pigmenti
• Bloch-Siemens syndrome see incontinentia pigmenti
• Bloch-Sulzberger Syndrome see incontinentia pigmenti
• Bloom syndrome
• BOFS see branchio-oculo-facial syndrome
• Bourneville Disease see tuberous sclerosis complex
• Bourneville Phakomatosis see tuberous sclerosis complex
• branchial clefts with characteristic facies, growth retardation, imperforate nasolacrimal duct, and premature aging see branchio-oculo-facial syndrome
• branchio-oculo-facial syndrome
• brittle hair-intellectual impairment-decreased fertility-short stature syndrome see trichothiodystrophy
• Brooke-Fordyce trichoepitheliomas see multiple familial trichoepithelioma
• Brooke-Spiegler syndrome
• BRRS see Bannayan-Riley-Ruvalcaba syndrome
• BRSS see Brooke-Spiegler syndrome
• BSS see Brooke-Spiegler syndrome
• BTD deficiency see biotinidase deficiency
• Buckley syndrome see Job syndrome
• bullous congenital ichthyosiform erythroderma see epidermolytic hyperkeratosis
• bullous erythroderma ichthyosiforme see epidermolytic hyperkeratosis
• bullous erythroderma ichthyosiformis congenita of Brocq see epidermolytic hyperkeratosis
• bullous ichthyosiform erythroderma see epidermolytic hyperkeratosis
• BZS see Bannayan-Riley-Ruvalcaba syndrome
• calcifying epithelioma of Malherbe see pilomatricoma
• Cantú syndrome
• Carboxylase Deficiency, Multiple, Late-Onset see biotinidase deficiency
• cardio-cutaneous syndrome see multiple lentigines syndrome
• cardio-facio-cutaneous syndrome see cardiofaciocutaneous syndrome
• cardiofaciocutaneous syndrome
• Carmi syndrome see epidermolysis bullosa with pyloric atresia
• cartilage-hair hypoplasia
• CDPX2 see X-linked chondrodysplasia punctata 2
• CDS see Chanarin-Dorfman syndrome
• cerebral sclerosis see tuberous sclerosis complex
• CFC syndrome see cardiofaciocutaneous syndrome
• Chanarin-Dorfman syndrome
• Chediak-Higashi syndrome
• Chediak-Steinbrinck-Higashi syndrome see Chediak-Higashi syndrome
• CHH see cartilage-hair hypoplasia
• CHILD syndrome see congenital hemidysplasia with ichthyosiform erythroderma and limb defects
• chondrodysplasia punctata 2, X-linked see X-linked chondrodysplasia punctata 2
• chondrodysplasia with hemangioma see Maffucci syndrome
• chondroectodermal dysplasia see Ellis-van Creveld syndrome
• chondroplasia angiomatosis see Maffucci syndrome
• Christ-Siemens-Touraine Syndrome see hypohidrotic ectodermal dysplasia
• chronic infantile neurologic, cutaneous, and articular syndrome see neonatal onset multisystem inflammatory disease
• chronic neurologic, cutaneous, and articular syndrome see neonatal onset multisystem inflammatory disease
• chronic recurrent multifocal osteomyelitis, congenital dyserythropoietic anemia, and neutrophilic dermatosis see Majeed syndrome
• CHS see Chediak-Higashi syndrome
• CINCA see neonatal onset multisystem inflammatory disease
• CIPA see congenital insensitivity to pain with anhidrosis
• classic Refsum disease see Refsum disease
• Coffin-Siris syndrome
• cold hypersensitivity see familial cold autoinflammatory syndrome
• collodion baby see lamellar ichthyosis; nonbullous congenital ichthyosiform erythroderma
• congenital deafness with keratopachydermia and constrictions of fingers and toes see Vohwinkel syndrome
• congenital hemidysplasia with ichthyosiform erythroderma and limb defects
• congenital icthyosis mental retardation spasticity syndrome see Sjögren-Larsson syndrome
• congenital insensitivity to pain with anhidrosis
• congenital nonbullous ichthyosiform erythroderma see nonbullous congenital ichthyosiform erythroderma
• congenital pachyonychia see pachyonychia congenita
• Congenital poikiloderma see Rothmund-Thomson Syndrome
• congenital telangiectatic erythema see Bloom syndrome
• Conradi-Hünermann-Happle syndrome see X-linked chondrodysplasia punctata 2
• Conradi-Hünermann Syndrome see X-linked chondrodysplasia punctata 2
• constitutional liver dysfunction see Gilbert syndrome
• Copper transport disease see Menkes syndrome
• Costello syndrome
• Craniosynostosis-radial aplasia syndrome see Baller-Gerold syndrome
• Craniosynostosis with radial defects see Baller-Gerold syndrome
• CRD see Refsum disease
• Cree encephalitis see Aicardi-Goutieres syndrome
• Crigler-Najjar syndrome
• Crouzon syndrome with acanthosis nigricans see Crouzonodermoskeletal syndrome
• Crouzonodermoskeletal syndrome
• CST syndrome see hypohidrotic ectodermal dysplasia
• Cutaneous ossification see progressive osseous heteroplasia
• cutis laxa
• Darier disease
• Darier-Ferrand tumor see dermatofibrosarcoma protuberans
• Darier-Hoffmann tumor see dermatofibrosarcoma protuberans
• dark dot disease see Dowling-Degos disease
• DDD see Dowling-Degos disease
• 9q22.3 deletion see 9q22.3 microdeletion
• 9q22 deletion syndrome see 9q22.3 microdeletion
• 22q13.3 deletion syndrome
• 22q13 deletion syndrome see 22q13.3 deletion syndrome
• dermal eccrine cylindroma see familial cylindromatosis
• dermatofibrosarcoma protuberans
• dermatolysis see cutis laxa
• dermatomegaly see cutis laxa
• DeSanctis-Cacchione syndrome see xeroderma pigmentosum
• DFSP see dermatofibrosarcoma protuberans
• diffuse lentiginosis see multiple lentigines syndrome
• Dowling-Degos disease
• dwarfism-onychodysplasia see Coffin-Siris syndrome
• dyschondroplasia and cavernous hemangioma see Maffucci syndrome
• dyskeratosis congenita
• dystrophic epidermolysis bullosa
• EAC see multiple familial trichoepithelioma
• Early-Onset Biotin-Responsive Multiple Carboxylase Deficiency see holocarboxylase synthetase deficiency
• Early-Onset Combined Carboxylase Deficiency see holocarboxylase synthetase deficiency
• early-onset sarcoidosis see Blau syndrome
• EB-PA see epidermolysis bullosa with pyloric atresia
• EBS see epidermolysis bullosa simplex
• Ectopic Ossification see progressive osseous heteroplasia
• eczema-thrombocytopenia-immunodeficiency syndrome see Wiskott-Aldrich syndrome
• EDS see Ehlers-Danlos syndrome
• EHK see epidermolytic hyperkeratosis
• Ehlers-Danlos syndrome
• Ellis-van Creveld syndrome
• encephalopathy with basal ganglia calcification see Aicardi-Goutieres syndrome
• enchondromatosis with hemangiomata see Maffucci syndrome
• epidermal nevus
• Epidermolysis Bullosa, Dystrophic see dystrophic epidermolysis bullosa
• Epidermolysis Bullosa, Junctional see junctional epidermolysis bullosa
• epidermolysis bullosa simplex
• epidermolysis bullosa with pyloric atresia
• epidermolytic hyperkeratosis
• Epiloia see tuberous sclerosis complex
• epithelioma adenoides cysticum of Brooke see multiple familial trichoepithelioma
• erythermalgia see erythromelalgia
• erythromelalgia
• Escobar syndrome see multiple pterygium syndrome
• Facio-genito-popliteal syndrome see popliteal pterygium syndrome
• faciocutaneoskeletal syndrome see Costello syndrome
• FALDH deficiency see Sjögren-Larsson syndrome
• familial amyloid polyneuropathy type IV see lattice corneal dystrophy type II
• familial amyloidosis, Finnish type see lattice corneal dystrophy type II
• familial cold autoinflammatory syndrome
• familial cylindromatosis
• familial erythromelalgia see erythromelalgia
• familial granulomatosis, Blau type see Blau syndrome
• familial infantile encephalopathy with intracranial calcification and chronic cerebrospinal fluid lymphocytosis see Aicardi-Goutieres syndrome
• familial juvenile systemic granulomatosis see Blau syndrome
• familial nonhemolytic jaundice see Gilbert syndrome
• familial nonhemolytic unconjugated hyperbilirubinemia see Crigler-Najjar syndrome
• familial pityriasis rubra pilaris
• familial progressive scleroderma see systemic scleroderma
• familial pterygium syndrome see multiple pterygium syndrome
• familial Turner syndrome see Noonan syndrome
• fatty aldehyde dehydrogenase deficiency see Sjögren-Larsson syndrome
• FCAS see familial cold autoinflammatory syndrome
• FCS syndrome see Costello syndrome
• FCU see familial cold autoinflammatory syndrome
• female pattern baldness see androgenetic alopecia
• Female Pseudo-Turner Syndrome see Noonan syndrome
• fibrofolliculomas with trichodiscomas and acrochordons see Birt-Hogg-Dubé syndrome
• Fibrous Dysplasia, Polyostotic see McCune-Albright syndrome
• Fibrous dysplasia with pigmentary skin changes and precocious puberty see McCune-Albright syndrome
• fifth digit syndrome see Coffin-Siris syndrome
• FNEPPK see focal palmoplantar keratoderma
• focal dermal hypoplasia
• focal palmoplantar keratoderma
• Fong disease see nail-patella syndrome
• FPPK see focal palmoplantar keratoderma
• Fucosidase deficiency see fucosidosis
• fucosidosis
• geleophysic dysplasia
• gelsolin-related amyloidosis see lattice corneal dystrophy type II
• Gilbert syndrome
• Goltz-Gorlin syndrome see focal dermal hypoplasia
• Goltz Syndrome see focal dermal hypoplasia
• Gorlin syndrome
• granuloma fungoides see mycosis fungoides
• granulomatous inflammatory arthritis, dermatitis, and uveitis, familial see Blau syndrome
• Groenblad-Strandberg syndrome see pseudoxanthoma elasticum
• Gronblad-Strandberg syndrome see pseudoxanthoma elasticum
• Happle syndrome see X-linked chondrodysplasia punctata 2
• harlequin ichthyosis
• Hay-Wells syndrome see ankyloblepharon-ectodermal defects-cleft lip/palate syndrome
• HED see hypohidrotic ectodermal dysplasia
• hemangiomata with dyschondroplasia see Maffucci syndrome
• hemangiomatosis chondrodystrophica see Maffucci syndrome
• hemangiomatous branchial clefts-lip pseudocleft syndrome see branchio-oculo-facial syndrome
• Hematoporphyria see porphyria
• hereditary leiomyomatosis and renal cell cancer
• hereditary motor and sensory neuropathy Type IV see Refsum disease
• hereditary multiple benign cystic epithelioma see multiple familial trichoepithelioma
• hereditary onycho-osteodysplasia see nail-patella syndrome
• hereditary osteo-onychodysplasia see nail-patella syndrome
• hereditary sensory and autonomic neuropathy, type 4 see congenital insensitivity to pain with anhidrosis
• hereditary sensory and autonomic neuropathy type IV see congenital insensitivity to pain with anhidrosis
• hereditary unconjugated hyperbilirubinemia see Crigler-Najjar syndrome
• heredopathia atactica polyneuritiformis see Refsum disease
• Hermansky-Pudlak syndrome
• Heterotopic Ossification see progressive osseous heteroplasia
• HGPS see Hutchinson-Gilford progeria syndrome
• HI see harlequin ichthyosis
• HID syndrome see hystrix-like ichthyosis with deafness
• hidradenitides, suppurative see hidradenitis suppurativa
• hidradenitis suppurativa
• HIE syndrome see Job syndrome
• HIES see Job syndrome
• HLCS deficiency see holocarboxylase synthetase deficiency
• HLRCC see hereditary leiomyomatosis and renal cell cancer
• HMSN IV see Refsum disease
• HMSN type IV see Refsum disease
• holocarboxylase synthetase deficiency
• Hornstein-Birt-Hogg-Dubé syndrome see Birt-Hogg-Dubé syndrome
• Hornstein-Knickenberg syndrome see Birt-Hogg-Dubé syndrome
• Hoyeraal-Hreidarsson syndrome see dyskeratosis congenita
• HPS see Hermansky-Pudlak syndrome
• HSAN type IV see congenital insensitivity to pain with anhidrosis
• HSAN4 see congenital insensitivity to pain with anhidrosis
• HTL see autosomal recessive hypotrichosis
• Hutchinson-Gilford progeria syndrome
• Hyper-IgE Syndrome see Job syndrome
• hyperbilirubinemia 1 see Gilbert syndrome
• hyperimidodipeptiduria see prolidase deficiency
• Hyperimmunoglobulin E-Recurrent Infection Syndrome see Job syndrome
• hyperkeratosis, epidermolytic see epidermolytic hyperkeratosis
• hypertrichosis-osteochondrodysplasia-cardiomegaly syndrome see Cantú syndrome
• hypertrichotic osteochondrodysplasia see Cantú syndrome
• Hypocupremia, Congenital see Menkes syndrome
• hypohidrotic ectodermal dysplasia
• hypotrichoses see autosomal recessive hypotrichosis
• hypotrichosis see autosomal recessive hypotrichosis
• hystrix-like ichthyosis with deafness
• IBIDS see trichothiodystrophy
• ichthyoses, lamellar see lamellar ichthyosis
• ichthyosiform erythroderma, corneal involvement, and deafness see keratitis-ichthyosis-deafness syndrome
• Ichthyosiform erythroderma, unilateral, with ipsilateral malformations, especially absence deformity of limbs see congenital hemidysplasia with ichthyosiform erythroderma and limb defects
• Ichthyosis Congenita, Harlequin Fetus Type see harlequin ichthyosis
• ichthyosis, lamellar see lamellar ichthyosis
• ichthyosis oligophrenia syndrome see Sjögren-Larsson syndrome
• Ichthyotic neutral lipid storage disease see Chanarin-Dorfman syndrome
• IMD2 see Wiskott-Aldrich syndrome
• imidodipeptidase deficiency see prolidase deficiency
• immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome
• immunodeficiency 2 see Wiskott-Aldrich syndrome
• incontinentia pigmenti
• Infantile Multiple Carboxylase Deficiency see holocarboxylase synthetase deficiency
• infantile onset multisystem inflammatory disease see neonatal onset multisystem inflammatory disease
• infantile systemic hyalinosis
• inherited systemic hyalinosis see infantile systemic hyalinosis; juvenile hyaline fibromatosis
• intestinal polyposis-cutaneous pigmentation syndrome see Peutz-Jeghers syndrome
• IOMID syndrome see neonatal onset multisystem inflammatory disease
• IP see incontinentia pigmenti
• IPEX syndrome see immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome
• Jackson-Lawler syndrome (PC-2) see pachyonychia congenita
• Jadassohn-Lewandowski syndrome (PC-1) see pachyonychia congenita
• JEB see junctional epidermolysis bullosa
• Job syndrome
• junctional epidermolysis bullosa
• junctional epidermolysis bullosa with pyloric atresia see epidermolysis bullosa with pyloric atresia
• juvenile hyaline fibromatosis
• Kast syndrome see Maffucci syndrome
• keratitis, ichthyosis, and deafness see keratitis-ichthyosis-deafness syndrome
• keratitis-ichthyosis-deafness syndrome
• keratoderma hereditarium mutilans see Vohwinkel syndrome
• Keratosis Follicularis see Darier disease
• KHM see Vohwinkel syndrome
• KID syndrome see keratitis-ichthyosis-deafness syndrome
• Kinky Hair Syndrome see Menkes syndrome
• knuckle pads, leukonychia, and sensorineural deafness see Bart-Pumphrey syndrome
• Kymenlaakso syndrome see lattice corneal dystrophy type II
• LAH see autosomal recessive hypotrichosis
• lamellar ichthyosis
• Late-onset biotin-responsive multiple carboxylase deficiency see biotinidase deficiency
• Late-onset multiple carboxylase deficiency see biotinidase deficiency
• lattice corneal dystrophy type II
• Legius syndrome
• leiomyomatosis and renal cell cancer see hereditary leiomyomatosis and renal cell cancer
• lentiginosis, perioral see Peutz-Jeghers syndrome
• lentiginosis profusa see multiple lentigines syndrome
• LEOPARD syndrome see multiple lentigines syndrome
• LI see lamellar ichthyosis
• lip pseudocleft-hemagiomatous branchial cyst syndrome see branchio-oculo-facial syndrome
• Louis-Bar syndrome see ataxia-telangiectasia
• LRCC see hereditary leiomyomatosis and renal cell cancer
• Maffucci syndrome
• Majeed syndrome
• Male Pattern Alopecia see androgenetic alopecia
• Male Pattern Baldness see androgenetic alopecia
• Male Turner Syndrome see Noonan syndrome
• Malherbe calcifying epithelioma see pilomatricoma
• Manitoba oculotrichoanal syndrome
• Marles-Greenberg-Persaud syndrome see Manitoba oculotrichoanal syndrome
• Marles syndrome see Manitoba oculotrichoanal syndrome
• MAS see McCune-Albright syndrome
• McCune-Albright syndrome
• McKusick's metaphyseal chondrodysplasia syndrome see cartilage-hair hypoplasia
• MCL see hereditary leiomyomatosis and renal cell cancer
• MCOPS7 see microphthalmia with linear skin defects syndrome
• MCUL see hereditary leiomyomatosis and renal cell cancer
• Menkea syndrome see Menkes syndrome
• Menkes syndrome
• mental retardation with hypoplastic fifth fingernails and toenails see Coffin-Siris syndrome
• Meretoja syndrome see lattice corneal dystrophy type II
• Metaphyseal chondrodysplasia, McKusick type see cartilage-hair hypoplasia
• metaphyseal chondrodysplasia, recessive type see cartilage-hair hypoplasia
• Meulengracht syndrome see Gilbert syndrome
• MFT see multiple familial trichoepithelioma
• 9q22.3 microdeletion
• microphthalmia with linear skin defects syndrome
• MIDAS syndrome see microphthalmia with linear skin defects syndrome
• MK see Menkes syndrome
• MLS syndrome see microphthalmia with linear skin defects syndrome
• MNK see Menkes syndrome
• molluscum fibrosum see juvenile hyaline fibromatosis
• monilethrix
• monosomy 22q13 see 22q13.3 deletion syndrome
• MOTA see Manitoba oculotrichoanal syndrome
• Moynahan syndrome see multiple lentigines syndrome
• Muckle-Wells syndrome
• mucocutaneous venous malformations see multiple cutaneous and mucosal venous malformations
• multiple angiomas and endochondromas see Maffucci syndrome
• Multiple Carboxylase Deficiency, Late-Onset see biotinidase deficiency
• Multiple Carboxylase Deficiency, Neonatal Form see holocarboxylase synthetase deficiency
• multiple cutaneous and mucosal venous malformations
• multiple cutaneous and uterine leiomyomata see hereditary leiomyomatosis and renal cell cancer
• multiple cutaneous leiomyoma see hereditary leiomyomatosis and renal cell cancer
• multiple familial trichoepithelioma
• multiple lentigines syndrome
• multiple pterygium syndrome
• multiple sebaceous cysts see steatocystoma multiplex
• multiplex steatocystoma see steatocystoma multiplex
• Murray syndrome see juvenile hyaline fibromatosis
• mutilating keratoderma see Vohwinkel syndrome
• MWS see Muckle-Wells syndrome
• mycosis fungoides
• Myhre-Riley-Smith syndrome see Bannayan-Riley-Ruvalcaba syndrome
• nail-patella syndrome
• NBCCS see Gorlin syndrome
• neonatal onset multisystem inflammatory disease
• neurofibromatosis type 1
• neurofibromatosis type 1-like syndrome see Legius syndrome
• neutral lipid storage disease with ichthyosis see Chanarin-Dorfman syndrome
• nevoid basal cell carcinoma syndrome see Gorlin syndrome
• NF1 see neurofibromatosis type 1
• NFLS see Legius syndrome
• NOMID see neonatal onset multisystem inflammatory disease
• nonbullous congenital ichthyosiform erythroderma
• Noonan syndrome
• Noonan syndrome with multiple lentigines see multiple lentigines syndrome
• OCA see oculocutaneous albinism
• oculo-dento-digital dysplasia see oculodentodigital dysplasia
• oculo-dento-osseous dysplasia see oculodentodigital dysplasia
• oculocutaneous albinism
• Oculocutaneous albinism with leukocyte defect see Chediak-Higashi syndrome
• oculodentodigital dysplasia
• oculodentoosseous dysplasia see oculodentodigital dysplasia
• ODD syndrome see oculodentodigital dysplasia
• ODDD see oculodentodigital dysplasia
• ODOD see oculodentodigital dysplasia
• Old Silk Route disease see Behçet disease
• osseous-oculo-dental dysplasia see oculodentodigital dysplasia
• osteitis fibrosa disseminata see McCune-Albright syndrome
• Osteodermia see progressive osseous heteroplasia
• Osteoma cutis see progressive osseous heteroplasia
• Osteosis cutis see progressive osseous heteroplasia
• Osterreicher syndrome see nail-patella syndrome
• PA-JEB see epidermolysis bullosa with pyloric atresia
• pachyonychia congenita
• palmoplantar keratoderma mutilans see Vohwinkel syndrome
• palmoplantar keratoderma with deafness
• Pattern baldness see androgenetic alopecia
• PBT see piebaldism
• PD see prolidase deficiency
• pediatric granulomatous arthritis see Blau syndrome
• pelvic horn syndrome see nail-patella syndrome
• peptidase deficiency see prolidase deficiency
• periorificial lentiginosis syndrome see Peutz-Jeghers syndrome
• Peripheral Neurofibromatosis see neurofibromatosis type 1
• Peutz-Jeghers syndrome
• PFD see McCune-Albright syndrome
• PHA1 see pseudohypoaldosteronism type 1
• Phelan-McDermid syndrome see 22q13.3 deletion syndrome
• phytanic acid storage disease see Refsum disease
• phytosterolaemia see sitosterolemia
• phytosterolemia see sitosterolemia
• PIBIDS see trichothiodystrophy
• piebald trait see piebaldism
• piebaldism
• pilomatricoma
• pilomatrixoma see pilomatricoma
• PJS see Peutz-Jeghers syndrome
• plant sterol storage disease see sitosterolemia
• POFD see McCune-Albright syndrome
• POH see progressive osseous heteroplasia
• Poikiloderma atrophicans and cataract see Rothmund-Thomson Syndrome
• Poikiloderma Congenitale see Rothmund-Thomson Syndrome
• Polyostotic Fibrous Dysplasia see McCune-Albright syndrome
• polyposis, hamartomatous intestinal see Peutz-Jeghers syndrome
• polyposis, intestinal, II see Peutz-Jeghers syndrome
• polyps-and-spots syndrome see Peutz-Jeghers syndrome
• popliteal pterygium syndrome
• porphyria
• porphyrin disorder see porphyria
• PPK-deafness syndrome see palmoplantar keratoderma with deafness
• PPK mutilans Vohwinkel see Vohwinkel syndrome
• PPK with deafness see palmoplantar keratoderma with deafness
• PPS see popliteal pterygium syndrome
• Prieur-Griscelli syndrome see neonatal onset multisystem inflammatory disease
• primary erythromelalgia see erythromelalgia
• Progeria see Hutchinson-Gilford progeria syndrome
• progressive cardiomyopathic lentiginosis see multiple lentigines syndrome
• progressive osseous heteroplasia
• progressive scleroderma see systemic scleroderma
• prolidase deficiency
• Proteus syndrome
• PS see Proteus syndrome
• pseudo-TORCH syndrome see Aicardi-Goutieres syndrome
• pseudo-Ullrich-Turner syndrome see Noonan syndrome
• pseudohypoaldosteronism type 1
• pseudotoxoplasmosis syndrome see Aicardi-Goutieres syndrome
• pseudoxanthoma elasticum
• psoriatic arthritis
• pterygium syndrome see multiple pterygium syndrome
• Puretic syndrome see juvenile hyaline fibromatosis
• PXE see pseudoxanthoma elasticum
• Recklinghausen Disease, Nerve see neurofibromatosis type 1
• Reed's syndrome see hereditary leiomyomatosis and renal cell cancer
• Refsum disease
• reticular pigment anomaly of flexures see Dowling-Degos disease
• Riley-Smith syndrome see Bannayan-Riley-Ruvalcaba syndrome
• Rothmund-Thomson Syndrome
• RTS see Rothmund-Thomson Syndrome
• Ruvalcaba-Myhre-Smith syndrome see Bannayan-Riley-Ruvalcaba syndrome
• Ruvalcaba-Myhre syndrome see Bannayan-Riley-Ruvalcaba syndrome
• SADDAN
• sclerosis tuberosa see tuberous sclerosis complex
• sebocystomatosis see steatocystoma multiplex
• Severe achondroplasia with developmental delay and acanthosis nigricans see SADDAN
• Sézary syndrome
• short stature-onychodysplasia see Coffin-Siris syndrome
• sitosterolaemia see sitosterolemia
• sitosterolemia
• Sjögren-Larsson syndrome
• Skeleton-skin-brain syndrome see SADDAN
• SLS see Sjögren-Larsson syndrome
• Spiegler-Brooke syndrome see Brooke-Spiegler syndrome
• SSB syndrome see SADDAN
• steatocystoma multiplex
• Steely Hair Syndrome see Menkes syndrome
• suppurative hidradenitides see hidradenitis suppurativa
• suppurative hidradenitis see hidradenitis suppurativa
• syndromic microphthalmia-7 see microphthalmia with linear skin defects syndrome
• Systemic hyalinosis see juvenile hyaline fibromatosis
• systemic scleroderma
• telangiectasia, cerebello-oculocutaneous see ataxia-telangiectasia
• total hypotrichosis, Mari type see autosomal recessive hypotrichosis
• trichothiodystrophy
• Triglyceride storage disease with ichthyosis see Chanarin-Dorfman syndrome
• triglyceride storage disease with impaired long-chain fatty acid oxidation see Chanarin-Dorfman syndrome
• triple symptom complex see Behçet disease
• TTD see trichothiodystrophy
• tuberose sclerosis see tuberous sclerosis complex
• tuberous sclerosis complex
• turban tumor syndrome see familial cylindromatosis
• Turner-Kieser syndrome see nail-patella syndrome
• Turner-like syndrome see Noonan syndrome
• Turner syndrome in female with X chromosome see Noonan syndrome
• Turner's phenotype, karyotype normal see Noonan syndrome
• UDA syndrome see Muckle-Wells syndrome
• Ullrich-Noonan syndrome see Noonan syndrome
• unconjugated benign bilirubinemia see Gilbert syndrome
• urticaria-deafness-amyloidosis syndrome see Muckle-Wells syndrome
• UV-sensitive syndrome
• UVSS see UV-sensitive syndrome
• vitiligo
• VMCM see multiple cutaneous and mucosal venous malformations
• Vohwinkel syndrome
• von Recklinghausen Disease see neurofibromatosis type 1
• Waardenburg syndrome
• Werner syndrome
• Wiskott-Aldrich syndrome
• Wiskott syndrome see Wiskott-Aldrich syndrome
• WS see Werner syndrome
• X-linked chondrodysplasia punctata 2
• X-linked copper deficiency see Menkes syndrome
• xeroderma pigmentosum
• XP see xeroderma pigmentosum
• Zinsser-Cole-Engman syndrome see dyskeratosis congenita