Entry - 247990 - MACDERMOT-WINTER SYNDROME - OMIM

 
ICD+
247990

MACDERMOT-WINTER SYNDROME


Clinical Synopsis
 

HEENT
- Facial anomalies
- Microcephaly
- Prominent glabella
- Arched eyebrows
- Low upswept frontal hairline
- Large ears
- Posteriorly rotated ears
- Folded helix
GU
- Hypoplastic genitalia
- Hydronephrosis
Growth
- Prenatal growth deficiency
Neuro
- Psychomotor development failure
- Seizures
- Dilated cerebral ventricles
Limbs
- Partial camptodactyly
Thorax
- Wide-spaced nipples
Misc
- Death in infancy
Inheritance
- Autosomal recessive
▲ Close

▼ TEXT

MacDermot and Winter (1989) described a seemingly 'new' syndrome with facial anomalies, microcephaly, hypoplastic genitalia, and failure of psychomotor development. The 2 brothers were from a consanguineous Moslem family. They showed prenatal onset of growth deficiency and had convulsions from birth. Atypical anomalies consisted of a prominent glabella, arched eyebrows, a low upswept frontal hairline, large posteriorly rotated ears with overfolded upper helices, partial camptodactyly, and wide-spaced nipples. Death occurred at 21 days and 7 months, respectively. Postmortem examination showed dilated cerebral ventricles and hydronephrosis.


▼ REFERENCES

  1. MacDermot, K. D., Winter, R. M. Two brothers with facial anomalies, microcephaly, hypoplastic genitalia, and a failure of psychomotor development. Am. J. Med. Genet. 32: 60-62, 1989. [PubMed: 2705483, related citations] [Full Text]


Creation Date:
Victor A. McKusick : 2/13/1989
Edit History:
mimadm : 2/19/1994
supermim : 3/17/1992
supermim : 3/20/1990
ddp : 10/26/1989
root : 2/13/1989

247990

MACDERMOT-WINTER SYNDROME


SNOMEDCT: 716023007;   ORPHA: 2083;  



TEXT

MacDermot and Winter (1989) described a seemingly 'new' syndrome with facial anomalies, microcephaly, hypoplastic genitalia, and failure of psychomotor development. The 2 brothers were from a consanguineous Moslem family. They showed prenatal onset of growth deficiency and had convulsions from birth. Atypical anomalies consisted of a prominent glabella, arched eyebrows, a low upswept frontal hairline, large posteriorly rotated ears with overfolded upper helices, partial camptodactyly, and wide-spaced nipples. Death occurred at 21 days and 7 months, respectively. Postmortem examination showed dilated cerebral ventricles and hydronephrosis.


REFERENCES

  1. MacDermot, K. D., Winter, R. M. Two brothers with facial anomalies, microcephaly, hypoplastic genitalia, and a failure of psychomotor development. Am. J. Med. Genet. 32: 60-62, 1989. [PubMed: 2705483] [Full Text: https://doi.org/10.1002/ajmg.1320320113]


Creation Date:
Victor A. McKusick : 2/13/1989

Edit History:
mimadm : 2/19/1994
supermim : 3/17/1992
supermim : 3/20/1990
ddp : 10/26/1989
root : 2/13/1989



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OMIM® and Online Mendelian Inheritance in Man® are registered trademarks of the Johns Hopkins University.
Copyright® 1966-2024 Johns Hopkins University.

NOTE: OMIM is intended for use primarily by physicians and other professionals concerned with genetic disorders, by genetics researchers, and by advanced students in science and medicine. While the OMIM database is open to the public, users seeking information about a personal medical or genetic condition are urged to consult with a qualified physician for diagnosis and for answers to personal questions.
OMIM® and Online Mendelian Inheritance in Man® are registered trademarks of the Johns Hopkins University.
Copyright® 1966-2024 Johns Hopkins University.
Printed: April 25, 2024