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Global developmental delay, mild facial dysmorphisms, large tongue
A Hypothesis
An in-depth but sometimes speculative discussion of how genetic alterations in the genes of the TGF beta super family of hormones and receptors influence human health.
On POSSUM, when I put in the terms
Hypertelorism
Bifid uvula
[Hypomyoplasia] -- hypotonia or muscle
weakness/myopathy
Arachnodactyly
Arthrogryposis (or contractures)
Blue sclerae
, I get this differential:
Baller-Gerold syndrome
monosomy 21
terminal deletion 4q
Marden Walker syn
Marfan syn
Roberts syn
Shpritzen-Goldberg syn
London gives me over a thousand if you only require one search term to be
present and none are "mandatory". When I made bifid uvula a mandatory
(which of all the features made the most sense to be mandatory), I get 24
disorders:
Ritscher-Schinzel - Dandy-Walker; atrioventricular septal defect
Willems (1984) - short limbs, subluxed knees, cleft palate
Baller-Gerold
10q26 del
22q11.2 microdup
Lewandowski (1980) - short stature, multiple vertebral anomalies
Oro-facial-digital syn - type Gabrielli
Pfieffer syn
Van Staey (1990) - craniofacial anomalies, deafness, vermis hypoplasia
acrofacial dystosis - post axial defects
Bazopoulou-Kyrkanidou (1995) - ptosis, subvalvular aortic stenosis
Beare-Stevenson syn
Crouzon
Di George
Elsahy-Waters-branchioskeletogenital syn
Francois (1973) - agenesis of the corpus callosum, coloboma, vermis aplasia
Fryns
Osteopathia striata - cranial sclerosis
Pierre Robin sequence
Rubinstein Taybi
Serpentine fibula syndrome
Stankler (1982) - diarrhea, unusual facies, abnormal scalp hair
Zuncih (1983) - ichthyosis, cleft palate, MR, coloboma of the retina
