Dysmorphism-short stature-deafness-difference of sex development syndrome

What it is

A rare multiple congenital anomalies syndrome characterized by craniofacial dysmorphism (including microcephaly, facial asymmetry, arched eyebrows, hypertelorism, ptosis, broad and flat nasal bridge, small nose, inverted nostrils, cleft palate, microtia, micrognathia, and short neck), deafness, male pseudohermaphroditism and severe intellectual disability. Additional clinical features include intrauterine growth restriction, feeding difficulty, growth failure, pulmonary hypertension, patent ductus arteriosus, hypotonia, brisk tendon reflexes, repeated respiratory infections and persistent hypoxemia. There have been no further descriptions in the literature since 1986.

Key facts

Prevalence

<1 / 1 000 000

Age of onset

Infancy, Neonatal

Inheritance

Autosomal recessive

Classified as

Malformation syndrome

Prevalence figures describe populations, not individuals, and are often estimates from a single study. Where the figure is an incidence or a birth prevalence, it says so.

Signs and symptoms

These ranges are how often a sign appears across everyone diagnosed, not a prediction for one person — most people have some of these and not others. Orphanet also records findings that are specifically absent in this disease; those are in the data but not listed here.

ICD-10 codes

ICD-10 has no distinct code for most rare diseases, so many are filed under the nearest available one. A shared code identifies the group, not this disease — the ORPHAcode above is what identifies it.

Related health topics

Reached through the ICD-10 categories this disease is filed under, so these describe the broader group rather than this disease specifically.

Cross-references