Schinzel-Giedion syndrome
MIM.269150
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
- hepatoblastoma
- sacrococcygeal teratoma
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#