Entry - 233810 - GROWTH RETARDATION, SMALL AND PUFFY HANDS AND FEET, AND ECZEMA - OMIM

 
ICD+
233810

GROWTH RETARDATION, SMALL AND PUFFY HANDS AND FEET, AND ECZEMA


Clinical Synopsis
 

Growth
- Pre- and postnatal growth deficiency
Neuro
- Hypotonia
- Psychomotor retardation
- Impaired speech development
- Partial agenesis of the corpus callosum
Limbs
- Small and puffy hands and feet
Teeth
- Small and widely spaced teeth
Skin
- Eczematous skin
Inheritance
- Autosomal recessive
▲ Close

▼ TEXT

In 2 sisters and a boy born of consanguineous parents, Grubben et al. (1992) demonstrated an apparently new syndrome of pre- and postnatal growth deficiency, hypotonia, psychomotor retardation with notably impaired speech development, small and puffy hands and feet, small and widely spaced teeth, eczematous skin, and, in one of the sisters and the boy, partial agenesis of the corpus callosum.


▼ REFERENCES

  1. Grubben, C., De Cock, P., Borghgraef, M., van den Berghe, H., Fryns, J. P. Severe pre- and postnatal growth retardation, developmental delay with hypotonia and marked hypotrophy of the distal extremities, dental anomalies, and eczematous skin: a new autosomal recessive entity. Clin. Genet. 41: 16-21, 1992. [PubMed: 1378778, related citations] [Full Text]


Creation Date:
Victor A. McKusick : 5/4/1992
Edit History:
mimadm : 3/11/1994
carol : 5/4/1992

233810

GROWTH RETARDATION, SMALL AND PUFFY HANDS AND FEET, AND ECZEMA


ORPHA: 2101;  



TEXT

In 2 sisters and a boy born of consanguineous parents, Grubben et al. (1992) demonstrated an apparently new syndrome of pre- and postnatal growth deficiency, hypotonia, psychomotor retardation with notably impaired speech development, small and puffy hands and feet, small and widely spaced teeth, eczematous skin, and, in one of the sisters and the boy, partial agenesis of the corpus callosum.


REFERENCES

  1. Grubben, C., De Cock, P., Borghgraef, M., van den Berghe, H., Fryns, J. P. Severe pre- and postnatal growth retardation, developmental delay with hypotonia and marked hypotrophy of the distal extremities, dental anomalies, and eczematous skin: a new autosomal recessive entity. Clin. Genet. 41: 16-21, 1992. [PubMed: 1378778] [Full Text: https://doi.org/10.1111/j.1399-0004.1992.tb03621.x]


Creation Date:
Victor A. McKusick : 5/4/1992

Edit History:
mimadm : 3/11/1994
carol : 5/4/1992



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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: June 8, 2024