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Acromesomelic dysplasia, Grebe type
1 OMIM reference -
1 associated gene
19 connected diseases
18 signs/symptoms
Disease Type of connection
Brachydactyly type A2
Brachydactyly type C
Acromesomelic dysplasia, Hunter-Thomson type
Angel-shaped phalango-epiphyseal dysplasia
Brachydactyly type A1
Fibular aplasia - complex brachydactyly
Multiple synostoses syndrome
Proximal symphalangism
Generalized juvenile polyposis / juvenile polyposis coli
Hereditary mixed polyposis syndrome
Hereditary nonpolyposis colon cancer
Juvenile polyposis of infancy
Heritable pulmonary arterial hypertension
Idiopathic pulmonary arterial hypertension
Pulmonary venoocclusive disease
Fibrodysplasia ossificans progressiva
Situs ambiguus
Estrogen resistance syndrome
CARASIL
Synonym(s):
- Chondrodysplasia, Grebe type
Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Epidemiological data:
Class of prevalence: unknown
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal recessive
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
GDF5 P43026601146
Very frequent
- Aphalangia / hands and feet phalangeal bones absence / hypoplasia / aplasia
- Autosomal recessive inheritance
- Bowed diaphysis / diaphyses / long bones
- Carpal bones fusion / synostosis
- Dysostosis / chondrodysplasia / osteodysplasia / osteochondrosis / skeletal dysplasia
- Metacarpal anomalies / Archibald's sign
- Restricted joint mobility / joint stiffness / ankylosis
- Short foot / brachydactyly of toes
- Short hand / brachydactyly
- Short limbs / micromelia / brachymelia
- Short stature / dwarfism / nanism
- Tarsal anomaly / fusion / synostosis

Frequent
- Fibula anomaly (excluding short) / absence / agenesis / hypoplasia / fibular ray anomaly
- Postaxial polydactyly (hand)
- Thumb hypoplasia / aplasia / absence
- Tibia anomaly (excluding short) / absence / agenesis / hypoplasia / tibial ray anomaly

Occasional
- Death in infancy
- Stillbirth / neonatal death