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ORPHA:251071Malformation syndrome
Also called Del(8)(p23.1) · Monosomy 8p23.1
What it is
8p23.1 deletion involves a partial deletion of the short arm of chromosome 8 characterized by low birth weight, postnatal growth deficiency, mild intellectual deficit, hyperactivity, craniofacial abnormalities, and congenital heart defects.
Key facts
- Age of onset
- Infancy, Neonatal
- Inheritance
- Not applicable, Unknown
- Classified as
- Malformation syndrome
Signs and symptoms
Very common80–99%
3Common30–79%
27- Abnormal cardiac septum morphology
- Abnormal cardiovascular system morphology
- Abnormal pinna morphology
- Atrioventricular canal defect
- Attention deficit hyperactivity disorder
- Atypical behavior
- Biparietal narrowing
- Cryptorchidism
- Enlarged thorax
- Epicanthus
- Growth delay
- High forehead
- High palate
- Hypospadias
- Low-set ears
- Microcephaly
- Micrognathia
- Poor speech
- Pulmonary artery stenosis
- Seizure
- Short neck
- Short nose
- Short stature
- Tapered finger
- Weight loss
- Wide intermamillary distance
- Wide nasal bridge
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.
Gene
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
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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