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1p36 deletion syndrome

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1p36 deletion syndrome

ORPHA:1606Malformation syndrome

Also called Del(1)(p36) · Deletion 1p36 · Deletion 1pter · Monosomy 1p36 · Monosomy 1pter · Subtelomeric 1p36 deletion

What it is

A rare chromosomal anomaly characterized by distinctive facial dysmorphic features, hypotonia, developmental delay, intellectual disability, seizures, heart defects, poor/absent speech, and prenatal onset growth deficiency.

Key facts

Prevalence
1-5 / 10 000 (United States)
Age of onset
Antenatal, Neonatal
Inheritance
Multigenic/multifactorial, Not applicable
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.

Genes

CASZ1Role in the phenotype of
GABRDRole in the phenotype of
HSPG2Role in the phenotype of
KCNAB2Role in the phenotype of
LUZP1Role in the phenotype of
MMP23BRole in the phenotype of
PDPNRole in the phenotype of
PRDM16Role in the phenotype of
PRKCZRole in the phenotype of
RERERole in the phenotype of
SKIRole in the phenotype of
SPENRole in the phenotype of
UBE4BRole in the phenotype of

ICD-10 codes

Q93.5filed under a broader ICD-10 category — shared with 122 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

Genetic Disorders

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 6082MEDDRA 10082398MESH C535362MONDO 0011929OMIM 607872OMIM 616975OMIM 619343UMLS C1842870

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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