Rare Disease Library

Frontorhiny

Frontonasal dysplasia type 1 · ALX3-related frontonasal dysplasia

Acromelic frontonasal dysplasia

Acromelic frontonasal dysostosis · AFND

Atelosteogenesis type II

Atelosteogenesis type 2 · De la Chapelle dysplasia

Craniofrontonasal dysplasia

CFND · CFNS

Dentin dysplasia type I

DD-I · DTDP1

Dentin dysplasia type II

DD-II · DTDP2

Focal facial dermal dysplasia type I

Bitemporal aplasia cutis congenita · Brauer syndrome

Focal facial dermal dysplasia type II

FFDD type II · FFDD2

Focal facial dermal dysplasia type III

FFDD type III · FFDD3

Focal facial dermal dysplasia type IV

FFDD type IV · FFDD4

Frontofacionasal dysplasia

Gollop syndrome

Frontometaphyseal dysplasia

Frontonasal dysplasia

Median cleft face syndrome

Frontonasal dysplasia-alopecia-genital anomalies syndrome

ALX4-related FNDAG · Craniofrontonasal dysplasia with alopecia and hypogonadism

Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome

ALX1-related frontonasal dysplasia · Frontonasal dysplasia type 3

Heart-hand syndrome type 2

Atriodigital dysplasia type 2 · Tabatznik syndrome

Heart-hand syndrome type 3

Atriodigital dysplasia type 3 · Cardiomelic syndrome type 3

Hip dysplasia, Beukes type

BFHD · Beukes familial hip dysplasia

Holt-Oram syndrome

Atriodigital dysplasia type 1 · HOS

Isolated focal cortical dysplasia type II

Cortical dysplasia, Taylor type · FCD type II

Maxillonasal dysplasia

Binder syndrome · Maxillonasal dysostosis

Multiple epiphyseal dysplasia type 1

EDM1 · MED1

Multiple epiphyseal dysplasia type 4

Autosomal recessive multiple epiphyseal dysplasia · EDM4

Multiple epiphyseal dysplasia type 5

Bilateral hereditary micro-epiphyseal dysplasia · BHMED

OBSOLETE: Syndromic frontonasal dysplasia

OBSOLETE: Syndromic median cleft syndrome

Pyle disease

SFRP4-related Pyle disease · Metaphyseal dysplasia, Pyle type

SIX2-related frontonasal dysplasia

SIX2-related FND

SPECC1L-related hypertelorism syndrome

Brachycephalofrontonasal dysplasia · Teebi hypertelorism syndrome

Spondyloepiphyseal dysplasia with metatarsal shortening

Czech dysplasia, metatarsal type · SED with metatarsal shortening

Thanatophoric dysplasia type 1

TD1 · Thanatophoric dwarfism type 1