Rare Disease Library

Cono-spondylar dysplasia

Short stature-kyphosis-hypoplasia of basal ilia-cone epiphyses-facial dysmorphism syndrome

Cardiac anomalies-short stature-joint hypermobility-facial dysmorphism syndrome

PHD syndrome · Polyvalvular heart disease syndrome

Deafness-epiphyseal dysplasia-short stature syndrome

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

Epiphyseal dysplasia-hearing loss-dysmorphism syndrome

Finucane-Kurtz-Scott syndrome · Epiphyseal dysplasia-deafness-dysmorphism syndrome

Facial dysmorphism-immunodeficiency-livedo-short stature syndrome

FILS syndrome

Hypodontia-scalp hypotrichosis-facial dysmorphism syndrome

Autosomal recesive ectodermal dysplasia 14 · ARED14

KDM3B-related intellectual disability-facial dysmorphism-short stature syndrome

Diets-Jongmans Syndrome

Microcephaly-short stature-intellectual disability-facial dysmorphism syndrome

Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome

Moyamoya disease-short stature-facial dysmorphism-hypergonadotropic hypogonadism

Multiple epiphyseal dysplasia-macrocephaly-facial dysmorphism syndrome

Multiple epiphyseal dysplasia, Al-Gazali type

Myhre syndrome

Myhre-Laryngotracheal stenosis-arthropathy-prognathism-short stature syndrome · Facial dysmorphism-intellectual disability-short stature-hearing loss syndrome

Short stature-craniofacial anomalies-genital hypoplasia syndrome

Haspeslagh-Fryns-Muelenaere syndrome

Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome

SOFT syndrome

Wiedemann-Steiner syndrome

Hypertrichosis-short stature-facial dysmorphism-developmental delay syndrome