Genetic & Dysmorphic Book ELBABA M.A.

SANJAD-SAKATI SYNDROME OMIM 2008

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SANJAD-SAKATI SYNDROME/ OMIM 2008

HYPOPARATHYROIDISM-
HYPOPARATHYROIDISM-RETARDATION-
RETARDATION-DYSMORPHISM
SYNDROME; HRD
Clinical Synopsis
INHERITANCE :
Autosomal recessive
GROWTH :
Other
Severe intrauterine growth retardation
Postnatal growth retardation
HEAD AND NECK :
Head
Microcephaly
Face
Micrognathia
Prominent forehead
Long philtrum
Ears
Low-set ears
Posteriorly rotated ears
Eyes
Deep-set eyes
Nose
Beaked nose
Depressed nasal bridge
Mouth
Thin lips
Bifid uvula
GENITOURINARY :
External genitalia, male
Micropenis
Internal genitalia, male
Cryptorchidism
SKELETAL :
Delayed bone age
Patchy osteosclerosis
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Welcome to feedback and comment on email: mostafaelbaba@hotmail.com
Last update: 5 October 2008
Genetic & Dysmorphic Book ELBABA M.A.
SANJAD-SAKATI SYNDROME OMIM 2008
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Hands
Small hands
Feet
Small feet
NEUROLOGIC :
Central nervous system
Tetany
Hypocalcemic seizures
Mental retardation
Mild-moderate ventricular dilatation
ENDOCRINE FEATURES :
Low parathyroid hormone
Congenital hypoparathyroidism
IMMUNOLOGY :
Normal cell mediated immunity
Recurrent bacterial infections
LABORATORY ABNORMALITIES :
Hypocalcemia
Hyperphosphatemia
MISCELLANEOUS :
Allelic with Kenny-Caffey syndrome type 2 (244460)

MOLECULAR BASIS
Caused by mutation in the tubulin-specific chaperone E gene (TCBE,
604934.0001)
Gene map locus 1q42-q43

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Welcome to feedback and comment on email: mostafaelbaba@hotmail.com
Last update: 5 October 2008