Schinzel-Giedion Syndrome (SGS) is a rare genetic disorder that is easily missed.


Inheritance: autosomal recessive


Dysmorphic features include

(1) an infraorbital groove

(2) coarse facial features

(3) high protruding forehead

(4) hypertelorism

(5) prominent ear lobes

(6) bitemporal narrowing

(7) depressed nasal bridge


Other clinical findings include:

(1) congenital heart disease

(2) choanal atresia

(3) variable nail hypoplasia

(4) genitourinary defects (hydronephrosis, hypospadias, other genital abnormalities)

(5) progressive spasticity

(6) seizures

(7) poor motor progress

(8) developmental delay or mental retardation

(9) variable feeding difficulties

(10) variable hirsutism

(11) polydactyly

(12) variable hypoplasia of distal phalanges

(13) variable talipes deformities


Radiologic findings include:

(1) wide occipital synchrondrosis

(2) broad ribs

(3) short first metacarpals

(4) wide symphysis pubis


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