ODCs

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1 OMIM reference -
1 associated gene
24 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 5

2 OMIM references -
4 associated genes
17 signs/symptoms

Pseudoachondroplasia

Autosomal recessive Stickler syndrome


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	COMP	(0.52)	COL9A1

Citations in the biomedical literature:

Pseudoachondroplasia		Autosomal recessive Stickler syndrome
	Synonym(s): - Pseudoachondroplastic dysplasia - Pseudoachondroplastic spondyloepiphyseal dysplasia		Synonym(s): (no synonyms)

	Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare genetic disease		Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare eye disease - Rare genetic disease - Rare maxillo-facial surgical disease - Rare otorhinolaryngologic disease

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -

	Epidemiological data: Class of prevalence: 1-9 / 100 000 Average age onset: neonatal/infancy Average age of death: normal Type of inheritance: autosomal dominant		Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: childhood Average age of death: - Type of inheritance: autosomal recessive

	External references: 1 OMIM reference - 1 MeSH reference: C535819		External references: 2 OMIM references - No MeSH references


COMMON SIGNS	- Epiphyseal anomaly - Genu valgum - Hyperextensible joints / articular hyperlaxity - Platyspondyly - Short stature / dwarfism / nanism

Pseudoachondroplasia		Autosomal recessive Stickler syndrome
	Very frequent - Autosomal dominant inheritance - Bowed diaphysis / diaphyses / long bones - Delayed bone age - Hip dislocation / dysplasia / coxa valga / coxa vara / coxa plana - Metacarpal anomalies / Archibald's sign - Metaphyseal anomaly - Short hand / brachydactyly - Short limbs / micromelia / brachymelia - Wrist / carpal anomalies Frequent - Abnormal gait - Articular / joint pain / arthralgia - Lordosis - Osteoarthritis - Restricted joint mobility / joint stiffness / ankylosis - Scoliosis - Short foot / brachydactyly of toes Occasional - Genu varum - Kyphosis - Odontoid hypoplasia		Very frequent - Autosomal recessive inheritance - Dysostosis / chondrodysplasia / osteodysplasia / osteochondrosis / skeletal dysplasia - Flat face - Sensorineural deafness / hearing loss Frequent - Abnormal vertebral size / shape - Astigmatism - Hypoplastic maxillary bones / zygomatic bones / maxillary hypoplasia - Myopia - Retinitis pigmentosa / retinal pigmentary changes - Retinopathy - Visual loss / blindness / amblyopia - Vitreous anomalies / hyalitis / persistent vitreous vascularisation