Gamuts

Hypochondroplasia

Hypochondroplasia (HCH) is a developmental disorder caused by an autosomal dominant genetic defect in the fibroblast growth factor receptor 3 gene (FGFR3) that results in a disproportionately short stature, micromelia and a head that appears large in comparison with the underdeveloped portions of the body. It is classified as short-limbed dwarfism. [Source: Wikipedia ]

OrphaNet reference
Hypochondroplasia 
May Cause
Bowed bones
Brachydactyly
Broad tubular bones
Cataract
Cone-shaped epiphysis
Congenital macrocephaly
Congenital midface hypoplasia
Congenital narrow spinal canal
Congenital short hands and feet
Congenital short limbs
Congenital vertebral abnormality
Congenitally abnormal pelvis
Cuboid vertebrae
Delayed closure of fontanelles
Elongation of fibula
Eyelid ptosis
Facial asymmetry
Facial hypoplasia
Frontal bossing
Genu varum
Hypoplastic pelvis
Joint laxity
Large fontanelle
Late-onset dwarfism
Macrocephaly
Metaphyseal cupping
Multiple abnormal epiphyses
Narrow spinal canal
Platyspondyly
Rhizomelic dwarfism
Short and broad distal phalanges of hand
Short foot
Short hand
Short metacarpal
Short metatarsal
Short squat bones
Skull base hypoplasia
Small acetabular angle
Small foramen magnum
Small sciatic notch
Thick ribs
Type A pelvis
Wide diametaphysis
Wide metaphysis

Copyright © 2022, Charles E. Kahn, Jr., MD, MS
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