Achondrogenesis type ib

An autosomal dominant condition caused by mutation(s) in the COL2A1 gene, encoding collagen alpha-1(II) chain. It is the most severe of a spectrum of disorders caused by mutations in the COL2A1 gene, characterized by short limbs, small chest and lungs, and abnormal ossification of the spine and pelvis. Often, infants die at birth or shortly thereafter.

Disease Alternative Name

type ii achondrogenesis
hypochondrogenesis
achondrogenesis
type ii
langer-saldino achondrogenesis
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Top Achondrogenesis type ib Doctors on Curofy

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MUMBAI
1092 followers

Siddhivinayak Clinic

Lceh Gp

User Languages
Speaks English
Hyderabad
1936 followers

BHASKARA HOSPITAL

OBSTETRICIAN &GYNECOLOGIST

Kakatiya Medical College

M.D ( OB&GY )

User Languages
Speaks Malyalam
Madurai/ Coimbatore
31 followers

FEMCARE CLINIC

Vilankurichi

MaduraiKamaraj University

MBBS.FCGP.

User Languages
Speaks English