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The skin is the largest organ in the body. A sizeable number of genetic disorders affect the skin, hair, and nails.
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A-T see ataxia-telangiectasia
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AAT see alpha-1 antitrypsin deficiency
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Adult premature aging syndrome see Werner syndrome
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Adult Progeria see Werner syndrome
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Albinism, Oculocutaneous see oculocutaneous albinism
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Albright-McCune-Sternberg syndrome see McCune-Albright syndrome
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Albright-Sternberg syndrome see McCune-Albright syndrome
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Albright Syndrome see McCune-Albright syndrome
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Albright's disease see McCune-Albright syndrome
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Aldrich Syndrome see Wiskott-Aldrich syndrome
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ALMS see Alström syndrome
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alpha-1 antitrypsin deficiency
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Alpha-fucosidase deficiency see fucosidosis
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Alström syndrome
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androgenetic alopecia
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Androgenic alopecia see androgenetic alopecia
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Anhidrotic Ectodermal Dysplasia see hypohidrotic ectodermal dysplasia
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ataxia-telangiectasia
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ATM see ataxia-telangiectasia
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Baller-Gerold syndrome
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Basal Cell Nevus Syndrome see Gorlin syndrome
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BCNS see Gorlin syndrome
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BGS see Baller-Gerold syndrome
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BHD see Birt-Hogg-Dubé syndrome
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BIOT see biotinidase deficiency
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biotinidase deficiency
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Birt-Hogg-Dubé syndrome
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Bloch-Siemens-Sulzberger Syndrome see incontinentia pigmenti
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Bloch-Siemens syndrome see incontinentia pigmenti
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Bloch-Sulzberger Syndrome see incontinentia pigmenti
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Bloom syndrome
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Bourneville Disease see tuberous sclerosis
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Bourneville Phakomatosis see tuberous sclerosis
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BTD deficiency see biotinidase deficiency
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Buckley syndrome see Job syndrome
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Carboxylase Deficiency, Multiple, Late-Onset see biotinidase deficiency
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Cardio-facio-cutaneous syndrome see cardiofaciocutaneous syndrome
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cardiofaciocutaneous syndrome
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cartilage-hair hypoplasia
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CDS see Chanarin-Dorfman syndrome
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cerebral sclerosis see tuberous sclerosis
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CFC syndrome see cardiofaciocutaneous syndrome
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Chanarin-Dorfman syndrome
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Chediak-Higashi syndrome
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Chediak-Steinbrinck-Higashi syndrome see Chediak-Higashi syndrome
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CHH see cartilage-hair hypoplasia
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CHILD syndrome see congenital hemidysplasia with ichthyosiform erythroderma and limb defects
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Chondroectodermal Dysplasia see Ellis-van Creveld syndrome
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Christ-Siemens-Touraine Syndrome see hypohidrotic ectodermal dysplasia
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chronic infantile neurologic, cutaneous, and articular syndrome see neonatal onset multisystem inflammatory disease
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chronic neurologic, cutaneous, and articular syndrome see neonatal onset multisystem inflammatory disease
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CHS see Chediak-Higashi syndrome
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CINCA see neonatal onset multisystem inflammatory disease
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cold hypersensitivity see familial cold autoinflammatory syndrome
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congenital hemidysplasia with ichthyosiform erythroderma and limb defects
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Congenital pachyonychia see pachyonychia congenita
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Congenital poikiloderma see Rothmund-Thomson Syndrome
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Copper transport disease see Menkes syndrome
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Costello syndrome
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Craniosynostosis-radial aplasia syndrome see Baller-Gerold syndrome
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Craniosynostosis with radial defects see Baller-Gerold syndrome
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Crouzon syndrome with acanthosis nigricans see Crouzonodermoskeletal syndrome
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Crouzonodermoskeletal syndrome
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CST syndrome see hypohidrotic ectodermal dysplasia
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Cutaneous ossification see progressive osseous heteroplasia
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Darier disease
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dystrophic epidermolysis bullosa
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Early-Onset Biotin-Responsive Multiple Carboxylase Deficiency see holocarboxylase synthetase deficiency
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Early-Onset Combined Carboxylase Deficiency see holocarboxylase synthetase deficiency
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Ectopic Ossification see progressive osseous heteroplasia
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eczema-thrombocytopenia-immunodeficiency syndrome see Wiskott-Aldrich syndrome
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EDS see Ehlers-Danlos syndrome
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Ehlers-Danlos syndrome
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Ellis-van Creveld syndrome
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Epidermolysis Bullosa, Dystrophic see dystrophic epidermolysis bullosa
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epidermolysis bullosa simplex
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Epiloia see tuberous sclerosis
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Erythermalgia see erythromelalgia
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erythromelalgia
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Facio-genito-popliteal syndrome see popliteal pterygium syndrome
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faciocutaneoskeletal syndrome see Costello syndrome
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familial cold autoinflammatory syndrome
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familial Turner syndrome see Noonan syndrome
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FCAS see familial cold autoinflammatory syndrome
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FCS syndrome see Costello syndrome
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FCU see familial cold autoinflammatory syndrome
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female pattern baldness see androgenetic alopecia
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Female Pseudo-Turner Syndrome see Noonan syndrome
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Fibrofolliculomas with trichodiscomas and acrochordons see Birt-Hogg-Dubé syndrome
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Fibrous Dysplasia, Polyostotic see McCune-Albright syndrome
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Fibrous dysplasia with pigmentary skin changes and precocious puberty see McCune-Albright syndrome
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Fong disease see nail-patella syndrome
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Fucosidase deficiency see fucosidosis
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fucosidosis
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genetic emphysema see alpha-1 antitrypsin deficiency
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Gorlin syndrome
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Gronblad-Strandberg Syndrome see pseudoxanthoma elasticum
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harlequin ichthyosis
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HED see hypohidrotic ectodermal dysplasia
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Hematoporphyria see porphyria
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hereditary leiomyomatosis and renal cell cancer
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Hereditary onycho-osteodysplasia see nail-patella syndrome
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Hereditary Osteo-Onychodysplasias see nail-patella syndrome
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hereditary pulmonary emphysema see alpha-1 antitrypsin deficiency
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Heterotopic Ossification see progressive osseous heteroplasia
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HGPS see Hutchinson-Gilford progeria syndrome
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HI see harlequin ichthyosis
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HIE syndrome see Job syndrome
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HIES see Job syndrome
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HLCS deficiency see holocarboxylase synthetase deficiency
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HLRCC see hereditary leiomyomatosis and renal cell cancer
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holocarboxylase synthetase deficiency
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Hornstein-Knickenberg syndrome see Birt-Hogg-Dubé syndrome
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Hutchinson-Gilford progeria syndrome
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Hyper-IgE Syndrome see Job syndrome
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Hyperimmunoglobulin E-Recurrent Infection Syndrome see Job syndrome
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Hypocupremia, Congenital see Menkes syndrome
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hypohidrotic ectodermal dysplasia
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Ichthyosiform erythroderma, unilateral, with ipsilateral malformations, especially absence deformity of limbs see congenital hemidysplasia with ichthyosiform erythroderma and limb defects
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Ichthyosis Congenita, Harlequin Fetus Type see harlequin ichthyosis
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Ichthyotic neutral lipid storage disease see Chanarin-Dorfman syndrome
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IMD2 see Wiskott-Aldrich syndrome
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immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome
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immunodeficiency 2 see Wiskott-Aldrich syndrome
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incontinentia pigmenti
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Infantile Multiple Carboxylase Deficiency see holocarboxylase synthetase deficiency
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infantile onset multisystem inflammatory disease see neonatal onset multisystem inflammatory disease
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infantile systemic hyalinosis
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inherited emphysema see alpha-1 antitrypsin deficiency
- inherited systemic hyalinosis see infantile systemic hyalinosis; juvenile hyaline fibromatosis
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Intestinal polyposis-cutaneous pigmentation syndrome see Peutz-Jeghers syndrome
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IOMID syndrome see neonatal onset multisystem inflammatory disease
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IP see incontinentia pigmenti
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IPEX syndrome see immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome
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Jackson-Lawler syndrome (PC-2) see pachyonychia congenita
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Jadassohn-Lewandowski syndrome (PC-1) see pachyonychia congenita
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Job syndrome
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juvenile hyaline fibromatosis
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Keratosis Follicularis see Darier disease
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Kinky Hair Syndrome see Menkes syndrome
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Late-onset biotin-responsive multiple carboxylase deficiency see biotinidase deficiency
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Late-onset multiple carboxylase deficiency see biotinidase deficiency
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leiomyomatosis and renal cell cancer see hereditary leiomyomatosis and renal cell cancer
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Lentiginosis, Perioral see Peutz-Jeghers syndrome
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Louis-Bar syndrome see ataxia-telangiectasia
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LRCC see hereditary leiomyomatosis and renal cell cancer
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Male Pattern Alopecia see androgenetic alopecia
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Male Pattern Baldness see androgenetic alopecia
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Male Turner Syndrome see Noonan syndrome
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MAS see McCune-Albright syndrome
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McCune-Albright syndrome
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McKusick's metaphyseal chondrodysplasia syndrome see cartilage-hair hypoplasia
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MCL see hereditary leiomyomatosis and renal cell cancer
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MCUL see hereditary leiomyomatosis and renal cell cancer
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Menkea syndrome see Menkes syndrome
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Menkes syndrome
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Metaphyseal chondrodysplasia, McKusick type see cartilage-hair hypoplasia
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metaphyseal chondrodysplasia, recessive type see cartilage-hair hypoplasia
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MK see Menkes syndrome
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MNK see Menkes syndrome
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molluscum fibrosum see juvenile hyaline fibromatosis
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Muckle-Wells syndrome
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Multiple Carboxylase Deficiency, Late-Onset see biotinidase deficiency
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Multiple Carboxylase Deficiency, Neonatal Form see holocarboxylase synthetase deficiency
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multiple cutaneous and uterine leiomyomata see hereditary leiomyomatosis and renal cell cancer
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multiple cutaneous leiomyoma see hereditary leiomyomatosis and renal cell cancer
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Murray syndrome see juvenile hyaline fibromatosis
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MWS see Muckle-Wells syndrome
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nail-patella syndrome
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NBCCS see Gorlin syndrome
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neonatal onset multisystem inflammatory disease
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neurofibromatosis type 1
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neutral lipid storage disease with ichthyosis see Chanarin-Dorfman syndrome
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Nevoid Basal Cell Carcinoma Syndrome see Gorlin syndrome
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NF1 see neurofibromatosis type 1
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NOMID see neonatal onset multisystem inflammatory disease
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Noonan syndrome
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OCA see oculocutaneous albinism
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oculocutaneous albinism
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Oculocutaneous albinism with leukocyte defect see Chediak-Higashi syndrome
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osteitis fibrosa disseminata see McCune-Albright syndrome
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Osteodermia see progressive osseous heteroplasia
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Osteoma cutis see progressive osseous heteroplasia
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Osteosis cutis see progressive osseous heteroplasia
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Osterreicher Syndrome see nail-patella syndrome
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pachyonychia congenita
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Pattern baldness see androgenetic alopecia
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Pelvic Horn Syndrome see nail-patella syndrome
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Periorificial lentiginosis syndrome see Peutz-Jeghers syndrome
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Peripheral Neurofibromatosis see neurofibromatosis type 1
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Peutz-Jeghers syndrome
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PFD see McCune-Albright syndrome
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PJS see Peutz-Jeghers syndrome
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POFD see McCune-Albright syndrome
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POH see progressive osseous heteroplasia
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Poikiloderma atrophicans and cataract see Rothmund-Thomson Syndrome
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Poikiloderma Congenitale see Rothmund-Thomson Syndrome
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Polyostotic Fibrous Dysplasia see McCune-Albright syndrome
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Polyposis, hamartomatous intestinal see Peutz-Jeghers syndrome
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Polyposis, Intestinal, II see Peutz-Jeghers syndrome
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Polyps-and-spots syndrome see Peutz-Jeghers syndrome
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popliteal pterygium syndrome
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porphyria
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porphyrin disorder see porphyria
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PPS see popliteal pterygium syndrome
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Prieur-Griscelli syndrome see neonatal onset multisystem inflammatory disease
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primary erythromelalgia see erythromelalgia
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Progeria see Hutchinson-Gilford progeria syndrome
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progressive osseous heteroplasia
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pseudo-Ullrich-Turner syndrome see Noonan syndrome
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pseudoxanthoma elasticum
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Puretic syndrome see juvenile hyaline fibromatosis
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PXE see pseudoxanthoma elasticum
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Recklinghausen Disease, Nerve see neurofibromatosis type 1
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Reed's syndrome see hereditary leiomyomatosis and renal cell cancer
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Rothmund-Thomson Syndrome
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RTS see Rothmund-Thomson Syndrome
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SADDAN
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sclerosis tuberosa see tuberous sclerosis
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Severe achondroplasia with developmental delay and acanthosis nigricans see SADDAN
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Skeleton-skin-brain syndrome see SADDAN
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SSB syndrome see SADDAN
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Steely Hair Syndrome see Menkes syndrome
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Systemic hyalinosis see juvenile hyaline fibromatosis
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Telangiectasia, cerebello-oculocutaneous see ataxia-telangiectasia
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Triglyceride storage disease with ichthyosis see Chanarin-Dorfman syndrome
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triglyceride storage disease with impaired long-chain fatty acid oxidation see Chanarin-Dorfman syndrome
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tuberose sclerosis see tuberous sclerosis
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tuberous sclerosis
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Turner-Kieser Syndrome see nail-patella syndrome
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Turner-like syndrome see Noonan syndrome
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Turner syndrome in female with X chromosome see Noonan syndrome
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Turner's phenotype, karyotype normal see Noonan syndrome
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UDA syndrome see Muckle-Wells syndrome
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Ullrich-Noonan syndrome see Noonan syndrome
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urticaria-deafness-amyloidosis syndrome see Muckle-Wells syndrome
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von Recklinghausen Disease see neurofibromatosis type 1
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Waardenburg syndrome
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Werner syndrome
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Wiskott-Aldrich syndrome
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WS see Werner syndrome
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X-linked copper deficiency see Menkes syndrome
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Published: January 23, 2009