MCID: MCR274
MIFTS: 20
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Microcephalic Primordial Dwarfism, Montreal Type
Categories:
Fetal diseases, Neuronal diseases, Rare diseases, Skin diseases
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MalaCards integrated aliases for Microcephalic Primordial Dwarfism, Montreal Type:
Characteristics:Orphanet epidemiological data:58
microcephalic primordial dwarfism, montreal type
Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; HPO:31Classifications:
MalaCards categories:
Global: Rare diseases Fetal diseases Anatomical: Neuronal diseases Skin 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: 2617 Definition A rare, genetic multiple congenital anomalies/dysmorphic syndrome characterized by severe short stature and craniofacial dysmorphism (microcephaly , narrow face with flat cheeks, ptosis , prominent nose with a convex ridge, low-set ears with small or absent lobes, high-arched/cleft palate , micrognathia ), associated with premature graying and loss of scalp hair, redundant, dry and wrinkled skin of the palms, premature senility and varying degrees of intellectual disability . Cryptorchidism and skeletal anomalies may also be observed. There have been no further descriptions in the literature since 1970. Visit the Orphanet disease page for more resources.
MalaCards based summary : Microcephalic Primordial Dwarfism, Montreal Type, also known as bird-headed dwarfism, montreal type, is related to dwarfism. Affiliated tissues include skin, bone and brain, and related phenotypes are intellectual disability and scoliosis
More information from OMIM:
210700
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Diseases related to Microcephalic Primordial Dwarfism, Montreal Type via text searches within MalaCards or GeneCards Suite gene sharing:
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Human phenotypes related to Microcephalic Primordial Dwarfism, Montreal Type:58 31 (show all 36)
Symptoms via clinical synopsis from OMIM:56Clinical features from OMIM:210700 |
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MalaCards organs/tissues related to Microcephalic Primordial Dwarfism, Montreal Type:40
Skin,
Bone,
Brain
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Articles related to Microcephalic Primordial Dwarfism, Montreal Type:
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Search
GEO
for disease gene expression data for Microcephalic Primordial Dwarfism, Montreal Type.
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