Rare Disease Library

3M syndrome

3-M syndrome · Yakut short stature syndrome

46,XX ovarian dysgenesis-short stature syndrome

Absent thumb-short stature-immunodeficiency syndrome

Ataxia-photosensitivity-short stature syndrome

Fenton-Wilkinson-Toselano syndrome

Cleft palate-short stature-vertebral anomalies syndrome

Mathieu-De Broca-Bony syndrome

Cone rod dystrophy-short stature syndrome

Cutaneous mastocytosis-deafness-microtia syndrome

Mastocytosis-short stature-hearing loss syndrome · Cutaneous mastocytosis-hearing loss-microtia syndrome

Deafness-epiphyseal dysplasia-short stature syndrome

Chitty-Hall-Baraitser syndrome · Hearing loss-epiphyseal dysplasia-short stature syndrome

Ear-patella-short stature syndrome

Meier-Gorlin syndrome

Eng-Strom syndrome

Short stature-locking fingers syndrome

Feingold syndrome type 2

Brachydactyly-short stature-microcephaly syndrome · Brunner-Winter syndrome type 2

Genetic malformation syndrome with short stature

Larsen-like osseous dysplasia-short stature syndrome

Macrocephaly-short stature-paraplegia syndrome

Volcke-Soekarman syndrome

Malformation syndrome with short stature

Nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome

Ectodermal dysplasia-short stature syndrome · Short stature-nail dysplasia-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome

OBSOLETE: Preeyasombat-Varavithya syndrome

OBSOLETE: Short stature-hyperkaliemia-acidosis syndrome

Progeria-short stature-pigmented nevi syndrome

Mulvihill-Smith syndrome

Short bowel syndrome

Short stature-optic atrophy-Pelger-Huët anomaly syndrome

SOPH syndrome

Short stature-webbed neck-heart disease syndrome

Al Gazali-Aziz-Salem syndrome

Short stature-wormian bones-dextrocardia syndrome

Stratton-Parker syndrome

SHORT syndrome

Lipodystrophy-Rieger anomaly-diabetes syndrome · Rieger anomaly-partial lipodystrophy syndrome

SHOX-related short stature

Skeletal dysplasia-epilepsy-short stature syndrome

Gurrieri-Sammito-Bellussi syndrome

Subaortic stenosis-short stature syndrome

Onat syndrome

Syndactyly-telecanthus-anogenital and renal malformations syndrome

STAR syndrome

Thumb deformity-alopecia-pigmentation anomaly syndrome

Sparse hair-short stature-skin anomalies syndrome

Trigonocephaly-short stature-developmental delay syndrome

Say-Meyer syndrome

X-linked corneal dermoid

Corneal dystrophy epithelial-short stature syndrome · Guízar Vázquez-Luengas-Muñoz syndrome