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Parastremmatic dwarfism

1 OMIM reference -
1 associated gene
25 signs/symptoms

COMMON GENES: 1
COMMON SIGNS: 8

Metatropic dysplasia

1 OMIM reference -
1 associated gene
26 signs/symptoms

Parastremmatic dwarfism

Metatropic dysplasia

TRPV4

(UniProt - OMIM)

(UniProt - OMIM)


COMMON GENES	TRPV4

Citations in the biomedical literature:

Parastremmatic dwarfism		Metatropic dysplasia
	Synonym(s): (no synonyms)		Synonym(s): - Metatropic dwarfism

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

	External references: 1 OMIM reference - 1 MeSH reference: C537172		External references: 1 OMIM reference - 1 MeSH reference: C537356


COMMON SIGNS	- High forehead - Kyphosis - Metaphyseal anomaly - Pelvis anomaly / Narrow / broad iliac wings / pubis abnormality - Restricted joint mobility / joint stiffness / ankylosis - Rough trabeculation of bone - Scoliosis - Short stature / dwarfism / nanism

Parastremmatic dwarfism		Metatropic dysplasia
	Very frequent - Abnormal gait - Autosomal dominant inheritance - Bowed diaphysis / diaphyses / long bones - Epiphyseal anomaly - Genu valgum - Lack / delayed ossification of spine / vertebrae - Osteoporosis / osteopenia / demineralisation / osteomalacia / rickets - Platyspondyly - Rib structure anomalies - Short foot / brachydactyly of toes - Short hand / brachydactyly - Short neck Frequent - Brachycephaly / flat occiput - Frontal bossing / prominent forehead - Genu varum - Lower limb asymmetry / hemiatrophy / hemihypertrophy - Pectus carinatum		Very frequent - Abnormal vertebral size / shape - Abnormal / absent ossification - Anomalies of the ribs - Autosomal recessive inheritance - Cortical anomaly / thick bone cortical layer - Depressed nasal bridge - Dysostosis / chondrodysplasia / osteodysplasia / osteochondrosis / skeletal dysplasia - Intervertebral disk anomaly - Long rib cage / thorax - Narrow rib cage / thorax - Short limbs / micromelia / brachymelia Occasional - Camptodactyly of fingers - Cataract / lens opacification - Cleft palate without cleft lip / submucosal cleft palate / bifid uvula - Clinodactyly of fifth finger - Hydrocephaly - Hypoplastic lungs / pulmonary hypoplasia / agenesis - Low set ears / posteriorly rotated ears