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Sanjad-Sakati syndrome
1 OMIM reference -
1 associated gene
3 connected diseases
37 signs/symptoms
Disease Type of connection
Autosomal recessive Kenny-Caffey syndrome
Glycogen storage disease due to liver glycogen phosphorylase deficiency
Psychomotor retardation due to S-adenosylhomocysteine hydrolase deficiency
Synonym(s):
- HRD syndrome
- Hypoparathyroidism - intellectual deficit - dysmorphism
- Hypoparathyroidism - short stature - intellectual deficit - seizures
- Middle-East syndrome
- Richadson-Kirk syndrome
- SSS
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare endocrine disease
- Rare genetic disease
- Rare neurologic disease
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Epidemiological data:
Class of prevalence: unknown
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal recessive
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
TBCE Q15813604934
Very frequent
- Autosomal recessive inheritance
- Beaked nose
- Deepset eyes / enophthalmos
- Delayed bone age
- Depressed nasal bridge
- External ear anomalies
- Failure to thrive / difficulties for feeding in infancy / growth delay
- Frontal bossing / prominent forehead
- High forehead
- Hyperphosphtemia
- Hypocalcemia
- Hypoparathyroidy
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Intrauterine growth retardation
- Long philtrum
- Low set ears / posteriorly rotated ears
- Microcephaly
- Micrognathia / retrognathia / micrognathism / retrognathism
- Seizures / epilepsy / absences / spasms / status epilepticus
- Short stature / dwarfism / nanism
- Small foot
- Small hand / acromicria
- Thin / retracted lips

Frequent
- Anomalies of teeth and dentition
- Enamel anomaly
- Repeat respiratory infections

Occasional
- Anophthalmos / anophthalmia / microphthalmos / microphthalmia
- Astigmatism
- Corneal clouding / opacity / vascularisation
- Dilated cerebral ventricles without hydrocephaly
- Intestinal obstruction / ileus
- Micropenis / small penis / agenesis
- Myopathy
- Osteosclerosis / osteopetrosis / bone condensation
- Rachidian / spine canal stenosis
- T-cell deficiency / cellular immunity deficiency
- Undescended / ectopic testes / cryptorchidia / unfixed testes