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Acromesomelic dysplasia, Grebe type

1 OMIM reference -
1 associated gene
18 signs/symptoms

COMMON GENES: 1
COMMON SIGNS: 5

Brachydactyly type A1

3 OMIM references -
2 associated genes
13 signs/symptoms

Acromesomelic dysplasia, Grebe type

Brachydactyly type A1

GDF5	(UniProt - OMIM)		GDF5	(UniProt - OMIM)
			IHH	(UniProt - OMIM)


COMMON GENES	GDF5

Citations in the biomedical literature:

Acromesomelic dysplasia, Grebe type		Brachydactyly type A1
	Synonym(s): - Chondrodysplasia, Grebe type		Synonym(s): - Brachydactyly, Farabee type

	Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare genetic disease		Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare genetic disease

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		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		Epidemiological data: Class of prevalence: unknown Average age onset: neonatal/infancy Average age of death: - Type of inheritance: autosomal dominant

	External references: 1 OMIM reference - No MeSH references		External references: 3 OMIM references - 1 MeSH reference: C537088


COMMON SIGNS	- Metacarpal anomalies / Archibald's sign - Short foot / brachydactyly of toes - Short hand / brachydactyly - Short stature / dwarfism / nanism - Thumb hypoplasia / aplasia / absence

Acromesomelic dysplasia, Grebe type		Brachydactyly type A1
	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 - Restricted joint mobility / joint stiffness / ankylosis - Short limbs / micromelia / brachymelia - Tarsal anomaly / fusion / synostosis Frequent - Fibula anomaly (excluding short) / absence / agenesis / hypoplasia / fibular ray anomaly - Postaxial polydactyly (hand) - Tibia anomaly (excluding short) / absence / agenesis / hypoplasia / tibial ray anomaly Occasional - Death in infancy - Stillbirth / neonatal death		Very frequent - Autosomal dominant inheritance - Short big toe Frequent - Cone epiphyses / epiphysis Occasional - Clinodactyly of fifth finger - Scoliosis - Symphalangy of fingers - Talipes-varus / metatarsal varus - Ulnar / cubital anomaly / absence / agenesis / hypoplasia / abnormal ulnar / cubital ray