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Syndrome of cleft palate, microcephaly, large ears, and short stature (Say syndrome)
B Abu-Libdeh1, A Fujimoto, M Ehinger
1Department of Pediatrics, Los Angeles County-University of Southern California Medical Center 90033.
Insights
A rare genetic syndrome characterized by cleft palate, short stature, and microcephaly is described in a second patient. This case suggests a potential new mutation, expanding knowledge of this inherited disorder.
Area of Science:
- Medical Genetics
- Pediatrics
- Rare Diseases
Background:
- A dominantly inherited syndrome was previously reported in 1975, featuring cleft palate, short stature, microcephaly, large ears, and hand anomalies.
- The syndrome's inheritance pattern and key clinical features were established by Say et al.
Observation:
- A 13-month-old girl presented with a constellation of symptoms including cleft palate, short stature, microcephaly, sparse scalp hair, and large, abnormally shaped ears.
- Additional findings included small hands with tapering fingers, delayed bone age, unusual dermatoglyphics, and developmental delay.
- Renal abnormalities were noted, specifically proximal renal tubular acidosis with cystic dysplasia of the kidneys.
Findings:
- This case represents the second reported instance of this specific syndrome.
- The patient's presentation aligns with the previously described syndrome, supporting its distinctiveness.
- The occurrence in a sporadic case suggests the possibility of a new mutation.
Implications:
- This report expands the known cases of this rare syndrome, aiding in diagnosis and understanding.
- Further research into the genetic basis and potential new mutations is warranted.
- Recognition of this syndrome is crucial for affected individuals, enabling appropriate management and genetic counseling.
Abstract:
In 1975 Say et al. (Humangenetik 26:267-269) reported on a new dominantly inherited syndrome of cleft palate, short stature, microcephaly, large ears, and hand anomalies in 4 members of a family. This is a report of a 13-month-old girl with cleft palate, short stature, microcephaly, sparse scalp hair, large abnormally shaped ears, small hands with tapering fingers, delayed bone age, unusual dermatoglyphics, proximal renal tubular acidosis with cystic dysplasia of the kidneys, and developmental delay. This case appears to be the second report of this syndrome which presumably occurred as a new mutation in this family.