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
• AAT see alpha-1 antitrypsin deficiency
• Adult premature aging syndrome see Werner syndrome
• Adult Progeria see Werner 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
• Aldrich Syndrome see Wiskott-Aldrich syndrome
• ALMS see Alström syndrome
• alpha-1 antitrypsin deficiency
• Alpha-fucosidase deficiency see fucosidosis
• Alström syndrome
• androgenetic alopecia
• Androgenic alopecia see androgenetic alopecia
• Anhidrotic Ectodermal Dysplasia see hypohidrotic ectodermal dysplasia
• ataxia-telangiectasia
• ATM see ataxia-telangiectasia
• Baller-Gerold syndrome
• Basal Cell Nevus Syndrome see Gorlin syndrome
• BCNS see Gorlin syndrome
• BGS see Baller-Gerold syndrome
• BHD see Birt-Hogg-Dubé syndrome
• BIOT see biotinidase deficiency
• biotinidase deficiency
• Birt-Hogg-Dubé syndrome
• Bloch-Siemens-Sulzberger Syndrome see incontinentia pigmenti
• Bloch-Siemens syndrome see incontinentia pigmenti
• Bloch-Sulzberger Syndrome see incontinentia pigmenti
• Bloom syndrome
• Bourneville Disease see tuberous sclerosis
• Bourneville Phakomatosis see tuberous sclerosis
• BTD deficiency see biotinidase deficiency
• Buckley syndrome see Job syndrome
• Carboxylase Deficiency, Multiple, Late-Onset see biotinidase deficiency
• Cardio-facio-cutaneous syndrome see cardiofaciocutaneous syndrome
• cardiofaciocutaneous syndrome
• cartilage-hair hypoplasia
• CDS see Chanarin-Dorfman syndrome
• cerebral sclerosis see tuberous sclerosis
• 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
• Chondroectodermal Dysplasia see Ellis-van Creveld 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
• CHS see Chediak-Higashi syndrome
• CINCA see neonatal onset multisystem inflammatory disease
• cold hypersensitivity see familial cold autoinflammatory syndrome
• congenital hemidysplasia with ichthyosiform erythroderma and limb defects
• Congenital pachyonychia see pachyonychia congenita
• Congenital poikiloderma see Rothmund-Thomson 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
• Crouzon syndrome with acanthosis nigricans see Crouzonodermoskeletal syndrome
• Crouzonodermoskeletal syndrome
• CST syndrome see hypohidrotic ectodermal dysplasia
• Cutaneous ossification see progressive osseous heteroplasia
• Darier disease
• dystrophic epidermolysis bullosa
• Early-Onset Biotin-Responsive Multiple Carboxylase Deficiency see holocarboxylase synthetase deficiency
• Early-Onset Combined Carboxylase Deficiency see holocarboxylase synthetase deficiency
• Ectopic Ossification see progressive osseous heteroplasia
• eczema-thrombocytopenia-immunodeficiency syndrome see Wiskott-Aldrich syndrome
• EDS see Ehlers-Danlos syndrome
• Ehlers-Danlos syndrome
• Ellis-van Creveld syndrome
• Epidermolysis Bullosa, Dystrophic see dystrophic epidermolysis bullosa
• epidermolysis bullosa simplex
• Epiloia see tuberous sclerosis
• Erythermalgia see erythromelalgia
• erythromelalgia
• Facio-genito-popliteal syndrome see popliteal pterygium syndrome
• faciocutaneoskeletal syndrome see Costello syndrome
• familial cold autoinflammatory syndrome
• familial Turner syndrome see Noonan 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
• Fong disease see nail-patella syndrome
• Fucosidase deficiency see fucosidosis
• fucosidosis
• genetic emphysema see alpha-1 antitrypsin deficiency
• Gorlin syndrome
• Gronblad-Strandberg Syndrome see pseudoxanthoma elasticum
• harlequin ichthyosis
• HED see hypohidrotic ectodermal dysplasia
• Hematoporphyria see porphyria
• hereditary leiomyomatosis and renal cell cancer
• Hereditary onycho-osteodysplasia see nail-patella syndrome
• Hereditary Osteo-Onychodysplasias see nail-patella syndrome
• hereditary pulmonary emphysema see alpha-1 antitrypsin deficiency
• Heterotopic Ossification see progressive osseous heteroplasia
• HGPS see Hutchinson-Gilford progeria syndrome
• HI see harlequin ichthyosis
• HIE syndrome see Job syndrome
• HIES see Job syndrome
• HLCS deficiency see holocarboxylase synthetase deficiency
• HLRCC see hereditary leiomyomatosis and renal cell cancer
• holocarboxylase synthetase deficiency
• Hornstein-Knickenberg syndrome see Birt-Hogg-Dubé syndrome
• Hutchinson-Gilford progeria syndrome
• Hyper-IgE Syndrome see Job syndrome
• Hyperimmunoglobulin E-Recurrent Infection Syndrome see Job syndrome
• Hypocupremia, Congenital see Menkes syndrome
• hypohidrotic ectodermal dysplasia
• 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
• Ichthyotic neutral lipid storage disease see Chanarin-Dorfman syndrome
• IMD2 see Wiskott-Aldrich syndrome
• 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 emphysema see alpha-1 antitrypsin deficiency
• 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
• Job syndrome
• juvenile hyaline fibromatosis
• Keratosis Follicularis see Darier disease
• Kinky Hair Syndrome see Menkes syndrome
• Late-onset biotin-responsive multiple carboxylase deficiency see biotinidase deficiency
• Late-onset multiple carboxylase deficiency see biotinidase deficiency
• leiomyomatosis and renal cell cancer see hereditary leiomyomatosis and renal cell cancer
• Lentiginosis, Perioral see Peutz-Jeghers syndrome
• Louis-Bar syndrome see ataxia-telangiectasia
• LRCC see hereditary leiomyomatosis and renal cell cancer
• Male Pattern Alopecia see androgenetic alopecia
• Male Pattern Baldness see androgenetic alopecia
• Male Turner Syndrome see Noonan 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
• MCUL see hereditary leiomyomatosis and renal cell cancer
• Menkea syndrome see Menkes syndrome
• Menkes syndrome
• Metaphyseal chondrodysplasia, McKusick type see cartilage-hair hypoplasia
• metaphyseal chondrodysplasia, recessive type see cartilage-hair hypoplasia
• MK see Menkes syndrome
• MNK see Menkes syndrome
• molluscum fibrosum see juvenile hyaline fibromatosis
• Muckle-Wells syndrome
• Multiple Carboxylase Deficiency, Late-Onset see biotinidase deficiency
• Multiple Carboxylase Deficiency, Neonatal Form see holocarboxylase synthetase deficiency
• multiple cutaneous and uterine leiomyomata see hereditary leiomyomatosis and renal cell cancer
• multiple cutaneous leiomyoma see hereditary leiomyomatosis and renal cell cancer
• Murray syndrome see juvenile hyaline fibromatosis
• MWS see Muckle-Wells syndrome
• nail-patella syndrome
• NBCCS see Gorlin syndrome
• neonatal onset multisystem inflammatory disease
• neurofibromatosis type 1
• neutral lipid storage disease with ichthyosis see Chanarin-Dorfman syndrome
• Nevoid Basal Cell Carcinoma Syndrome see Gorlin syndrome
• NF1 see neurofibromatosis type 1
• NOMID see neonatal onset multisystem inflammatory disease
• Noonan syndrome
• OCA see oculocutaneous albinism
• oculocutaneous albinism
• Oculocutaneous albinism with leukocyte defect see Chediak-Higashi syndrome
• 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
• pachyonychia congenita
• Pattern baldness see androgenetic alopecia
• Pelvic Horn Syndrome see nail-patella syndrome
• Periorificial lentiginosis syndrome see Peutz-Jeghers syndrome
• Peripheral Neurofibromatosis see neurofibromatosis type 1
• Peutz-Jeghers syndrome
• PFD see McCune-Albright syndrome
• PJS see Peutz-Jeghers syndrome
• 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
• 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 osseous heteroplasia
• pseudo-Ullrich-Turner syndrome see Noonan syndrome
• pseudoxanthoma elasticum
• 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
• Rothmund-Thomson Syndrome
• RTS see Rothmund-Thomson Syndrome
• SADDAN
• sclerosis tuberosa see tuberous sclerosis
• Severe achondroplasia with developmental delay and acanthosis nigricans see SADDAN
• Skeleton-skin-brain syndrome see SADDAN
• SSB syndrome see SADDAN
• Steely Hair Syndrome see Menkes syndrome
• Systemic hyalinosis see juvenile hyaline fibromatosis
• Telangiectasia, cerebello-oculocutaneous see ataxia-telangiectasia
• Triglyceride storage disease with ichthyosis see Chanarin-Dorfman syndrome
• triglyceride storage disease with impaired long-chain fatty acid oxidation see Chanarin-Dorfman syndrome
• tuberose sclerosis see tuberous sclerosis
• tuberous sclerosis
• 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
• urticaria-deafness-amyloidosis syndrome see Muckle-Wells syndrome
• von Recklinghausen Disease see neurofibromatosis type 1
• Waardenburg syndrome
• Werner syndrome
• Wiskott-Aldrich syndrome
• WS see Werner syndrome
• X-linked copper deficiency see Menkes syndrome