Chondrodysplasia-pseudohermaphroditism Syndrome

Description

Chondrodysplasia - disorder of sex development is an extremely rare disorder of sex development (see this term), reported in only two siblings (one terminated in pregnancy) to date, characterized by the clinical features of 46,XY complete gonadal dysgenesis (see this term; 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 discs), 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.

Clinical Features

Top most frequent phenotypes and symptoms related to Chondrodysplasia-pseudohermaphroditism Syndrome

  • Intellectual disability
  • Microcephaly
  • Strabismus
  • Intrauterine growth retardation
  • Severe short stature
  • Macrotia
  • Telecanthus
  • Blepharophimosis
  • Deeply set eye
  • Micromelia
And another 16 symptoms. If you need more information about this disease we can help you.
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Incidence and onset information

Not enough data available about incidence and published cases.


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Chondrodysplasia-pseudohermaphroditism Syndrome Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Disorders of Sex Development (DSD) and Infertility Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

HFE, FOXL2, STAR, WT1, HNF1B, HSD17B4, PITX2, ARL6, MKKS, TTC8, TRIM32, CYP11B1, TMEM70, HSD3B2, CYP11A1, HCCS, BCOR, CYB5A, GALT, BBS7 , (...)

View the complete list with 186 more genes
Specificity
1 %
Genes
100 %
Disorders of Sex Development (DSD) Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

HFE, FOXL2, STAR, WT1, HNF1B, HSD17B4, PITX2, ARL6, MKKS, TTC8, TRIM32, CYP11B1, TMEM70, HSD3B2, CYP11A1, HCCS, BCOR, CYB5A, BBS7, BBS5 , (...)

View the complete list with 138 more genes
Specificity
1 %
Genes
100 %
HHAT.

By Fulgent Genetics Fulgent Genetics in United States.

HHAT
Specificity
100 %
Genes
100 %

Alternate names

Chondrodysplasia-pseudohermaphroditism Syndrome Is also known as ;chondrodysplasia-pseudohermaphroditism syndrome; nivelon-nivelon-mabille syndrome.



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