Sanjad-Sakati syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: HYPOPARATHYROIDISM, CONGENITAL, ASSOCIATED WITH DYSMORPHISM, GROWTH RETARDATION, AND DEVELOPMENTAL DELAY
HYPOPARATHYROIDISM WITH SHORT STATURE, MENTAL RETARDATION, AND SEIZURES
SANJAD-SAKATI SYNDROME
SSS
HRD
Hypoparathyroidism - short stature - intellectual deficit - seizures
Hypoparathyroidism - intellectual deficit - dysmorphism
Richadson-Kirk syndrome
HRD syndrome
Middle-East syndrome
Number of Symptoms 54
OrphanetNr: 2323
OMIM Id: 241410
ICD-10: Q87.1
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
Rare genetic intellectual deficit with developmental anomaly
 -Rare genetic disease
Rare intellectual deficit with developmental anomaly
 -Rare neurologic disease
Syndrome with hypoparathyroidism
 -Rare endocrine disease
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000054) Micropenis Occasional [Orphanet] 257 / 7739
2
 (HPO:0000035) Abnormality of the testis Occasional [Orphanet] 296 / 7739
3
 (HPO:0000028) Cryptorchidism 347 / 7739
4
 (HPO:0011220) Prominent forehead 137 / 7739
5
 (HPO:0000682) Abnormality of dental enamel Frequent [Orphanet] 102 / 7739
6
 (HPO:0000252) Microcephaly Very frequent [Orphanet] 832 / 7739
7
 (HPO:0002007) Frontal bossing Very frequent [Orphanet] 366 / 7739
8
 (HPO:0000193) Bifid uvula 66 / 7739
9
 (HPO:0000277) Abnormality of the mandible Very frequent [Orphanet] 394 / 7739
10
 (HPO:0000490) Deeply set eye Very frequent [Orphanet] 131 / 7739
11
 (HPO:0000347) Micrognathia 426 / 7739
12
 (HPO:0000343) Long philtrum Very frequent [Orphanet] 262 / 7739
13
 (HPO:0005280) Depressed nasal bridge Very frequent [Orphanet] 381 / 7739
14
 (HPO:0000348) High forehead Very frequent [Orphanet] 157 / 7739
15
 (HPO:0000233) Thin vermilion border Very frequent [Orphanet] 124 / 7739
16
 (HPO:0000164) Abnormality of the teeth Frequent [Orphanet] 291 / 7739
17
 (HPO:0000444) Convex nasal ridge Very frequent [Orphanet] 87 / 7739
18
 (HPO:0000483) Astigmatism Occasional [Orphanet] 67 / 7739
19
 (HPO:0008056) Aplasia/Hypoplasia affecting the eye Occasional [Orphanet] 142 / 7739
20
 (HPO:0000481) Abnormality of the cornea Occasional [Orphanet] 124 / 7739
21
 (HPO:0000358) Posteriorly rotated ears 163 / 7739
22
 (HPO:0000369) Low-set ears 372 / 7739
23
 (HPO:0000357) Abnormal location of ears Very frequent [Orphanet] 328 / 7739
24
 (HPO:0000356) Abnormality of the outer ear Very frequent [Orphanet] 85 / 7739
25
 (HPO:0002199) Hypocalcemic seizures 6 / 7739
26
 (HPO:0001249) Intellectual disability 1089 / 7739
27
 (HPO:0001250) Seizures Very frequent [Orphanet] 1245 / 7739
28
 (HPO:0000829) Hypoparathyroidism Very frequent [Orphanet] 22 / 7739
29
 (HPO:0008198) Congenital hypoparathyroidism 3 / 7739
30
 (HPO:0002750) Delayed skeletal maturation Very frequent [Orphanet] 250 / 7739
31
 (HPO:0200055) Small hand Very frequent [Orphanet] 71 / 7739
32
 (HPO:0011001) Increased bone mineral density Occasional [Orphanet] 78 / 7739
33
 (HPO:0001773) Short foot Very frequent [Orphanet] 86 / 7739
34
 (HPO:0003416) Spinal canal stenosis Occasional [Orphanet] 28 / 7739
35
 (HPO:0005686) Patchy osteosclerosis 3 / 7739
36
 (HPO:0004279) Short palm 323 / 7739
37
 (HPO:0005214) Intestinal obstruction Occasional [Orphanet] 35 / 7739
38
 (HPO:0004322) Short stature Very frequent [Orphanet] 1232 / 7739
39
 (HPO:0004325) Decreased body weight Very frequent [Orphanet] 492 / 7739
40
 (HPO:0008846) Severe intrauterine growth retardation 5 / 7739
41
 (HPO:0001511) Intrauterine growth retardation Very frequent [Orphanet] 358 / 7739
42
 (HPO:0008897) Postnatal growth retardation 113 / 7739
43
 (HPO:0002901) Hypocalcemia Very frequent [Orphanet] 56 / 7739
44
 (HPO:0002905) Hyperphosphatemia Very frequent [Orphanet] 18 / 7739
45
 (HPO:0002205) Recurrent respiratory infections Frequent [Orphanet] 254 / 7739
46
 (HPO:0002718) Recurrent bacterial infections 75 / 7739
47
 (HPO:0005352) Severe T-cell immunodeficiency Occasional [Orphanet] 20 / 7739
48
 (HPO:0003198) Myopathy Occasional [Orphanet] 151 / 7739
49
 (HPO:0001281) Tetany 20 / 7739
50
 (OMIM) Mild-moderate ventricular dilatation 1 / 7739
51
 (HPO:0002119) Ventriculomegaly Occasional [Orphanet] 253 / 7739
52
 (HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739
53
 (OMIM) Normal cell mediated immunity 1 / 7739
54
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Congenital hypoparathyroidism in association with growth and mental retardation and seizures has been reported from the Middle East in children of consanguineous parents (Sanjad et al. (1988), Richardson and Kirk, 1990; Sanjad et al., 1991; Kalam and Hafeez, ...
Molecular genetics OMIM Parvari et al. (2002) demonstrated that both autosomal recessive Kenny-Caffey syndrome and the Sanjad-Sakati syndrome are caused by mutations in the TBCE gene (604934).
Population genetics OMIM Hershkovitz (1996) stated that the Bedouin in the Negev (southern part of Israel) came to that region 400 to 500 years ago from the western part of Arabia; thus, a relationship of the Israeli Arab patients to the ...