SAMES
MCID: TRG019
MIFTS: 32
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Trigonocephaly with Short Stature and Developmental Delay (SAMES)
Categories:
Bone diseases, Fetal diseases, Neuronal diseases, Rare diseases
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MalaCards integrated aliases for Trigonocephaly with Short Stature and Developmental Delay:
Name: Trigonocephaly with Short Stature and Developmental Delay
56
Characteristics:Orphanet epidemiological data:58
trigonocephaly-short stature-developmental delay syndrome
Prevalence: <1/1000000 (Worldwide); HPO:31
trigonocephaly with short stature and developmental delay:
Inheritance x-linked recessive inheritance Classifications:
MalaCards categories:
Global: Rare diseases Fetal diseases Anatomical: Neuronal diseases Bone diseases
ICD10:
33
Orphanet: 58
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NIH Rare Diseases :
52
The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 3369 Definition Trigonocephaly-short stature -developmental delay syndrome is characterised by short stature, trigonocephaly and developmental delay. It has been described in three males. Moderate intellectual deficit was reported in one of the males and the other two patients displayed psychomotor retardation. X-linked transmission has been suggested but autosomal recessive inheritance can not be ruled out. Visit the Orphanet disease page for more resources.
MalaCards based summary : Trigonocephaly with Short Stature and Developmental Delay, also known as say-meyer syndrome, is related to ankyloblepharon-ectodermal defects-cleft lip/palate and histiocytosis-lymphadenopathy plus syndrome, and has symptoms including seizures Affiliated tissues include bone, and related phenotypes are global developmental delay and short stature Wikipedia : 74 Say-Meyer syndrome is a rare X-linked genetic disorder that is mostly characterized as developmental... more...
More information from OMIM:
314320
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Human phenotypes related to Trigonocephaly with Short Stature and Developmental Delay:58 31 (show all 32)
Symptoms via clinical synopsis from OMIM:56Clinical features from OMIM:314320UMLS symptoms related to Trigonocephaly with Short Stature and Developmental Delay:seizures |
Interventional clinical trials:
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MalaCards organs/tissues related to Trigonocephaly with Short Stature and Developmental Delay:40
Bone
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Articles related to Trigonocephaly with Short Stature and Developmental Delay:
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ClinVar genetic disease variations for Trigonocephaly with Short Stature and Developmental Delay:6
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Search
GEO
for disease gene expression data for Trigonocephaly with Short Stature and Developmental Delay.
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