ODCs

Click node...

1 OMIM reference -
1 associated gene
25 signs/symptoms

COMMON GENES: 1
COMMON SIGNS: 8

1 OMIM reference -
1 associated gene
26 signs/symptoms

Achondrogenesis type 2

Spondyloepiphyseal dysplasia congenita

Citations in the biomedical literature:

Achondrogenesis type 2		Spondyloepiphyseal dysplasia congenita
	Synonym(s): - Achondrogenesis, Langer-Saldino type		Synonym(s): - Congenital spondyloepiphyseal dysplasia - SEDC - Spranger-Wiedemann disease

	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 dominant		Epidemiological data: Class of prevalence: unknown Average age onset: - Average age of death: - Type of inheritance: autosomal dominant

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


COMMON SIGNS	- Autosomal dominant inheritance - Dysostosis / chondrodysplasia / osteodysplasia / osteochondrosis / skeletal dysplasia - Flat face - Narrow rib cage / thorax - Short limbs / micromelia / brachymelia - Short neck - Short rib cage / thorax - Short stature / dwarfism / nanism

Achondrogenesis type 2		Spondyloepiphyseal dysplasia congenita
	Very frequent - Abnormal / absent ossification - Anteverted nares / nostrils - Excess nuchal skin without pterygium colli - Frontal bossing / prominent forehead - Hydrops fetalis - Hypoplastic lungs / pulmonary hypoplasia / agenesis - Long philtrum - Macrocephaly / macrocrania / megalocephaly / megacephaly - Micrognathia / retrognathia / micrognathism / retrognathism - 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)		Very frequent - Abnormal vertebral size / shape - Epiphyseal anomaly Frequent - Broad forehead - Cleft palate without cleft lip / submucosal cleft palate / bifid uvula - Hip dislocation / dysplasia / coxa valga / coxa vara / coxa plana - Hypertelorism - Lordosis - Osteoarthritis - Restricted joint mobility / joint stiffness / ankylosis - Talipes-varus / metatarsal varus Occasional - Cataract / lens opacification - Glaucoma - Hearing loss / hypoacusia / deafness - Kyphosis - Myopia - Nystagmus - Retinal detachment - Scoliosis