chondrodysplasia-pseudohermaphroditism syndrome
Chondrodysplasia - disorder of sex development is an extremely rare disorder of sex development, reported in only two siblings (one terminated in pregnancy) to date, characterized by the clinical features of 46,XY complete gonadal dysgenesis (normal external female genitalia, lack of pubertal development, primary amenorrhea, and hypergonadotrophic hypogonadism) in association with severe dwarfism with generalized chondrodysplasia (bell-shaped thorax, micromelia, brachydactyly). Other reported features in the live sibling included eye anomalies (hypoplastic irides, myopia, coloboma of optic disks), dysmorphic features (deep-set eyes, upslanting palpebral fissures, puffy eyelids, large ears and mouth, mild prognathism), muscular hypoplasia, mild intellectual deficiency and severe microcephaly with cerebellar vermis hypoplasia. An autosomal recessive inheritance has been suggested.
MONDO:0018232
obsolete primary bone dysplasia with micromelia (obsolete MONDO:0018232)
excluded_subClassOf
MONDO:0002254
syndromic disease
is_a
MONDO:0003847
hereditary disease
is_a
MONDO:0020040
46 XY differences of sex development
is_a
Nivelon-Nivelon-Mabille syndrome
exact
chondrodysplasia-disorder of sex development syndrome
exact
chondrodysplasia-pseudohermaphroditism syndrome
exact
SPAC24H6.01c