Schilbach-Rott syndrome

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Schilbach-Rott syndrome

ORPHA:2353Malformation syndrome

Also called BRSS · Hypotelorism-cleft palate-hypospadias syndrome

What it is

Schilbach-Rott syndrome (SRS) is an autosomal dominant dysmorphic disorder that is characterized by dysmorphic facies with hypotelorism, blepharophimosis, and cleft palate, and the frequent occurrence of hypospadias in males.

Key facts

Prevalence
<1 / 1 000 000
Age of onset
Infancy, Neonatal
Inheritance
Autosomal dominant
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.

Gene

PTCH1Role in the phenotype of

ICD-10 codes

Q87.8filed under a broader ICD-10 category — shared with 581 other rare diseases

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

GARD 2930MESH C563509MONDO 0008113OMIM 164220UMLS C1834038

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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