Rare Disease Library

Gorlin syndrome

Basal cell nevus syndrome · Gorlin-Goltz syndrome

Absence of fingerprints-congenital milia syndrome

Absence of dermatoglyphics-congenital milia syndrome · Baird syndrome

Balint syndrome

Balint-Holmes syndrome · Optic ataxia-gaze apraxia-simultanagnosia syndrome

Banki syndrome

Barth syndrome

3-methylglutaconic aciduria type 2 · BTHS

Bazex syndrome

Acrokeratosis of Bazex · Acrokeratosis paraneoplastica

Becker nevus syndrome

Pigmented hairy epidermal naevus · Becker naevus syndrome

Biliary atresia with splenic malformation syndrome

BASM syndrome

C syndrome

OTCS · Opitz C trigonocephaly

Cataract-nephropathy-encephalopathy syndrome

Crome syndrome

CEDNIK syndrome

Cerebral dysgenesis-neuropathy-ichthyosis-palmoplantar keratoderma syndrome

Cerebrooculonasal syndrome

CK syndrome

X-linked intellectual disability-microcephaly-cortical malformation-thin habitus syndrome

Congenital muscular dystrophy-infantile cataract-hypogonadism syndrome

Bassoe syndrome

Corticobasal syndrome

Epidermal nevus syndrome

Epidermal hamartoma syndrome

Epilepsy-microcephaly-skeletal dysplasia syndrome

Battaglia-Neri syndrome

Familial atypical multiple mole melanoma syndrome

B-K mole syndrome · FAMM-PC syndrome

Ghosal hematodiaphyseal dysplasia

Diaphyseal dysplasia-anemia syndrome · Ghosal syndrome

Linear nevus sebaceus syndrome

Nevus sebaceus of Jadassohn · Nevus sebaceus syndrome

Linear verrucous nevus syndrome

Linear hamartoma syndrome

N syndrome

Nelson syndrome

NESCAV syndrome

Neurodegeneration-spasticity-cerebellar atrophy-cortical visual impairment syndrome

NEVADA syndrome

Nevus epidermicus verrucosus with angiodysplasia and aneurysms

Nevo syndrome

Cerebral gigantism, Nevo type

Nevus comedonicus syndrome

Null syndrome

PLP1 null syndrome · Pelizaeus-Merzbacher disease, null syndrome

OBSOLETE: Ectodermal dysplasia-absent dermatoglyphs syndrome

OBSOLETE: Basan syndrome

Odontomatosis-aortae esophagus stenosis syndrome

Bader syndrome

PENS syndrome

Papular epidermal nevi with skyline basal cell layers syndrome

Pentalogy of Cantrell

Cantrell deformity · Cantrell syndrome

Primary basilar invagination

Bull-Nixon syndrome

Progressive supranuclear palsy-corticobasal syndrome

PSP-CBS · PSP-corticobasal syndrome

Rowell syndrome

Systemic cystic angiomatosis-Seip syndrome

Brunzell syndrome

Thoracolaryngopelvic dysplasia

Barnes syndrome

Toxic epidermal necrolysis

Lyell syndrome