Tetrasomy 5p

Orpha code: 3309OMIM code:

Definition

Tetrasomy 5p is a rare chromosomal anomaly syndrome with variable phenotype principally characterized by developmental delay, growth retardation/short stature, hypotonia, seizures, ventriculomegaly, hand and foot anomalies (e.g. clinodactyly, overlapping toes) and mosaic pigmentary skin changes. Patients may also present minor dysmorphic craniofacial features (incl. macrocephaly, upslanting palpebral fissures, hypertelorism, abnormal auricles, anteverted nasal tip, midface hypoplasia).

Disease data
Classification

Malformation syndrome

Synonyms
Isochromosome 5p
Izochromosom 5p
ORPHA code
3309
OMIM code
-
ICD10 code
Q99.8
ICD11 code
-

No additional description.

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