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Dysspondyloenchondromatosis

1 associated gene
22 signs/symptoms

COMMON GENES: 1
COMMON SIGNS: 3

Achondrogenesis type 2

1 OMIM reference -
1 associated gene
25 signs/symptoms

Dysspondyloenchondromatosis

Achondrogenesis type 2

(UniProt - OMIM)

(UniProt - OMIM)


COMMON GENES	COL2A1

Citations in the biomedical literature:

Dysspondyloenchondromatosis		Achondrogenesis type 2
	Synonym(s): (no synonyms)		Synonym(s): - Achondrogenesis, Langer-Saldino 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): (no data available)		Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -

	Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: - Average age of death: - Type of inheritance: autosomal dominant		Epidemiological data: Class of prevalence: unknown Average age onset: neonatal/infancy Average age of death: - Type of inheritance: autosomal dominant

	External references: No OMIM references No MeSH references		External references: 1 OMIM reference - 1 MeSH reference: C536017


COMMON SIGNS	- Autosomal dominant inheritance - Dysostosis / chondrodysplasia / osteodysplasia / osteochondrosis / skeletal dysplasia - Short stature / dwarfism / nanism

Dysspondyloenchondromatosis		Achondrogenesis type 2
	Very frequent - Anomalies of cartilages, joints and periarticular tissue - Anomalies of spine, vertebrae and pelvis - Autosomal recessive inheritance - Exostoses - Joint / articular deformation - Lower limb asymmetry / hemiatrophy / hemihypertrophy - Scoliosis - Vascular anomalies of skin / mucosae - Vertebral segmentation anomaly / hemivertebrae Frequent - Delayed bone age - Fibula anomaly (excluding short) / absence / agenesis / hypoplasia / fibular ray anomaly - Genu valgum - Osteoarthritis - Platyspondyly - Ulnar / cubital anomaly / absence / agenesis / hypoplasia / abnormal ulnar / cubital ray Occasional - Bone / osseous neoplasm / tumor / carcinoma / cancer - Capillary hemangioma / nevus / naevus flammeus / port-wine stain - Intellectual deficit / mental / psychomotor retardation / learning disability - Intracranial / cerebral calcifications		Very frequent - Abnormal / absent ossification - Anteverted nares / nostrils - Excess nuchal skin without pterygium colli - Flat face - Frontal bossing / prominent forehead - Hydrops fetalis - Hypoplastic lungs / pulmonary hypoplasia / agenesis - Long philtrum - Macrocephaly / macrocrania / megalocephaly / megacephaly - Micrognathia / retrognathia / micrognathism / retrognathism - Narrow rib cage / thorax - Short limbs / micromelia / brachymelia - Short neck - Short rib cage / thorax - Short / small nose - Stillbirth / neonatal death Frequent - Inguinal / inguinoscrotal / crural hernia - Polyhydramnios - Umbilical hernia Occasional - Congenital cardiac anomaly / malformation / cardiopathy - Cystic hygroma - Postaxial polydactyly (hand)