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Schinzel-Giedion syndrome

MIM.269150

Wednesday 8 March 2006

Autosomal recessive disease.

Synopsis

- failure to thrive
- postnatal growth deficiency
- widely patent fontanels and sutures
- metopic suture extends to nasal root
- coarse facies
- high forehead, protruding forehead
- midface hypoplasia
- facial hemangioma
- low-set ears
- shallow orbits
- proptosis
- hypertelorism
- short nose
- low nasal bridge
- anteverted nares
- macroglossia
- short neck
- atrial septal defect
- choanal stenosis
- hypoplastic first ribs
- broad ribs
- long clavicles
- short sternum
- hypoplastic nipples
- hypospadias
- short penis
- hypoplastic scrotum
- hypoplastic labia majora
- hypoplastic labia minora
- deep interlabial sulcus
- hymenal atresia
- short perineum
- internal genitalia, female
- bicornuate uterus
- hydronephrosis
- ureteral stenosis
- hydroureter
- steep short base of skull
- sclerotic skull base
- wormian bones
- wide occipital synchondrosis
- broad cortex of long bones
- increased density of long bones
- tibial bowing
- mesomelic brachymelia
- wide distal metaphysis of femur
- hypoplastic dermal ridges
- transverse palmar creases
- distal phalangeal hypoplasia
- postaxial polydactyly
- short first metacarpals
- talipes equinovarus
- fifth toe overlapping fourth
- distal phalangeal hypoplasia
- hypertrichosis
- facial hemangioma
- hypoplastic dermal ridges
- transverse palmar creases
- hyperconvex nails
- mental retardation
- seizures
- opisthotonus
- spasticity
- hypsarrhythmia
- cerebral atrophy
- ventriculomegaly
- thin corpus callosum
- hypothryoidism
- diabetes insipidus
- tumor predisposition

References

- McPherson, E.; Clemens, M.; Hoffner, L.; Surti, U. : Sacral tumors in Schinzel-Giedion syndrome. (Letter) Am. J. Med. Genet. 79: 62-63, 1998. PubMed ID : 9738870

- Robin, N. H.; Grace, K.; DeSouza, T. G.; McDonald-McGinn, D.; Zackai, E. H. : New finding of Schinzel-Giedion syndrome: a case with a malignant sacrococcygeal teratoma. Am. J. Med. Genet. 47: 852-856, 1993. PubMed ID : 7506484

- Schinzel, A.; Giedion, A. : A syndrome of severe midface retraction, multiple skull anomalies, clubfeet, and cardiac and renal malformations in sibs. Am. J. Med. Genet. 1: 361-375, 1978. PubMed ID : 665725