Microcephalic primordial dwarfism, Montreal type

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.



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Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)
PMID
(PMCID)
        

Phenotype(s) retrieved from Orphanet

    Total: 30

HPO ID Term Frequency
HP:0000028 Cryptorchidism Very frequent (99-80%)
HP:0000174 Abnormal palate morphology Very frequent (99-80%)
HP:0000252 Microcephaly Very frequent (99-80%)
HP:0000347 Micrognathia Very frequent (99-80%)
HP:0000368 Low-set, posteriorly rotated ears Very frequent (99-80%)
HP:0000444 Convex nasal ridge Very frequent (99-80%)
HP:0000508 Ptosis Very frequent (99-80%)
HP:0000670 Carious teeth Very frequent (99-80%)
HP:0000958 Dry skin Very frequent (99-80%)
HP:0000975 Hyperhidrosis Very frequent (99-80%)
HP:0001249 Intellectual disability Very frequent (99-80%)
HP:0001276 Hypertonia Very frequent (99-80%)
HP:0001347 Hyperreflexia Very frequent (99-80%)
HP:0002162 Low posterior hairline Very frequent (99-80%)
HP:0002216 Premature graying of hair Very frequent (99-80%)
HP:0002353 EEG abnormality Very frequent (99-80%)
HP:0002650 Scoliosis Very frequent (99-80%)
HP:0002808 Kyphosis Very frequent (99-80%)
HP:0003422 Vertebral segmentation defect Very frequent (99-80%)
HP:0003510 Severe short stature Very frequent (99-80%)
HP:0004349 Reduced bone mineral density Very frequent (99-80%)
HP:0004399 Congenital pyloric atresia Very frequent (99-80%)
HP:0006610 Wide intermamillary distance Very frequent (99-80%)
HP:0007477 Abnormal dermatoglyphics Very frequent (99-80%)
HP:0007495 Prematurely aged appearance Very frequent (99-80%)
HP:0009721 Shagreen patch Very frequent (99-80%)
HP:0010807 Open bite Very frequent (99-80%)
HP:0011362 Abnormal hair quantity Very frequent (99-80%)
HP:0100578 Lipoatrophy Very frequent (99-80%)
HP:0200115 None Very frequent (99-80%)


Phenotype(s) retrieved from case reports

    Total: 0

HPO ID Term # of case reports


Causative gene(s) retrieved from Orphanet

    Total: 0

Gene Symbol Gene Name Entrez Gene ID