CHONDRODYSPLASIA PUNCTATA, AUTOSOMAL DOMINANT

Question 1

What is  CHONDRODYSPLASIA PUNCTATA, AUTOSOMAL DOMINANT?

Accepted Answer

rare
autosomal dominant

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

Chondrodysplasia punctata, autosomal-dominante

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 118650

Question 4

Which enzymes are involved?

Accepted Answer

unknown

Disease	CHONDRODYSPLASIA PUNCTATA, AUTOSOMAL DOMINANT
Synonym	CHONDRODYSPLASIA PUNCTATA DUE TO VITAMIN K DEFICIENCY
OMIM	118650 OMIM = Online Mendelian Inheritance of Men
Orphanet	79344
Gene locus	unknown
ICD	Q77.3
Summary	rare autosomal dominant
Laboratory findings	no specific laboratory findings (P, S, U ,CSF) ()
Symptoms	alopecia cataract dysmorphism feeding difficulties, poor feeding flat depressed nasal bridge (saddle nose) glaucoma high arched palate hyperkeratosis hypertelorism ichthyosis limb abnormalities, limb deformities microphthalmus nystagmus onset, neonatal punctate calcifications respiratory distress X-ray, abnormalities