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Start free with EleplanDifference of sex development-intellectual disability syndrome
ORPHA:2983Disease
Also called Disorder of sex development-intellectual disability syndrome · Verloes-Gillerot-Fryns syndrome
What it is
A rare multiple congenital anomalies/dysmorphic syndrome characterized by variable degrees of intellectual disability, short stature, severe genital anomalies resulting in sexual ambiguity (such as pseudovaginal perineoscrotal hypospadias and persistence of Müllerian structures), and ocular anomalies (microphthalmia, coloboma). Craniofacial peculiarities (coarse features, deep set eyes), spina bifida, imperforate anus, and sensorineural hearing loss were also described. There have been no further descriptions in the literature since 1994.
Key facts
- Prevalence
- <1 / 1 000 000
- Age of onset
- Neonatal
- Inheritance
- Unknown
- Classified as
- Disease
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
Very common80–99%
23- Abnormal hair pattern
- Abnormality of the face
- Deeply set eye
- Downturned corners of mouth
- Genu valgum
- Hypogonadism
- Hypoplasia of penis
- Intellectual disability
- Kyphosis
- Low posterior hairline
- Microtia
- Posteriorly rotated ears
- Reduced bone mineral density
- Severe sensorineural hearing impairment
- Short neck
- Short nose
- Short philtrum
- Short thorax
- Small scrotum
- Spina bifida occulta
- Synophrys
- Thin vermilion border
- Wide intermamillary distance
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
Cross-references
Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.
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