Rare Disease Library

Thumb deformity-alopecia-pigmentation anomaly syndrome

Sparse hair-short stature-skin anomalies syndrome

OBSOLETE: Sparse hair-short stature-skin anomalies syndrome

3M syndrome

3-M syndrome · Yakut short stature syndrome

Autosomal dominant spastic paraplegia type 9A

Cataracts-motor neuropathy-short stature-skeletal anomalies syndrome · Spastic paraparesis-amyopathy-cataracts-gastroesophageal reflux syndrome

B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome

EDS with short stature and limb anomalies · EDS progeroid type 1

Cleft palate-short stature-vertebral anomalies syndrome

Mathieu-De Broca-Bony syndrome

Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome

Developmental delay-short stature-dysmorphic features-sparse hair syndrome · Loucks-Innes syndrome

Digital anomalies-intellectual disability-short stature syndrome

Ear-patella-short stature syndrome

Meier-Gorlin syndrome

Eng-Strom syndrome

Short stature-locking fingers syndrome

Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome

Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome due to mutation in PUF60 gene

OBSOLETE: Hypopituitarism-short stature-skeletal anomalies syndrome

OBSOLETE: Blethen-Wenick-Hawkins syndrome

OBSOLETE: Short stature-heart defect-craniofacial anomalies syndrome

OBSOLETE: Rommen-Mueller-Sybert syndrome

Richieri Costa-Pereira syndrome

Short stature-Pierre Robin sequence-cleft mandible-hand anomalies clubfoot syndrome · Short stature-Pierre Robin syndrome-cleft mandible-hand anomalies clubfoot syndrome

Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome

SAMS syndrome

Short stature-craniofacial anomalies-genital hypoplasia syndrome

Haspeslagh-Fryns-Muelenaere syndrome

Short stature-optic atrophy-Pelger-Huët anomaly syndrome

SOPH syndrome

Urban-Rogers-Meyer syndrome

Intellectual disability-short stature-hand contractures-genital anomalies syndrome · Prader-Willi habitus-osteopenia-camptodactyly syndrome