Bird headed-dwarfism, Montreal type

General Information (adopted from Orphanet):

Synonyms, Signs: BIRD-HEADED DWARFISM, MONTREAL TYPE
Number of Symptoms 47
OrphanetNr: 2617
OMIM Id: 210700
ICD-10: Q87.1
UMLs: C1859468
MeSH: C535448
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive inheritance
[Omim]
Age of onset:

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

Symptom Information: Sort by abundance 

1
 (HPO:0000028) Cryptorchidism 347 / 7739
2
 (HPO:0000035) Abnormality of the testis Very frequent [Orphanet] 296 / 7739
3
 (HPO:0000277) Abnormality of the mandible Very frequent [Orphanet] 394 / 7739
4
 (HPO:0002293) Alopecia of scalp 9 / 7739
5
 (HPO:0001090) Large eyes 20 / 7739
6
 (HPO:0002705) High, narrow palate Very frequent [Orphanet] 308 / 7739
7
 (HPO:0000444) Convex nasal ridge Very frequent [Orphanet] 87 / 7739
8
 (HPO:0000252) Microcephaly Very frequent [Orphanet] 832 / 7739
9
 (HPO:0002162) Low posterior hairline Very frequent [Orphanet] 88 / 7739
10
 (HPO:0000275) Narrow face 76 / 7739
11
 (HPO:0000670) Carious teeth Very frequent [Orphanet] 145 / 7739
12
 (HPO:0000689) Dental malocclusion Very frequent [Orphanet] 114 / 7739
13
 (HPO:0000278) Retrognathia 100 / 7739
14
 (HPO:0001357) Plagiocephaly Very frequent [Orphanet] 106 / 7739
15
 (HPO:0000508) Ptosis Very frequent [Orphanet] 459 / 7739
16
 (HPO:0000357) Abnormal location of ears Very frequent [Orphanet] 328 / 7739
17
 (HPO:0002353) EEG abnormality Very frequent [Orphanet] 188 / 7739
18
 (HPO:0001249) Intellectual disability 1089 / 7739
19
 (HPO:0001276) Hypertonia Very frequent [Orphanet] 317 / 7739
20
 (HPO:0001347) Hyperreflexia Very frequent [Orphanet] 363 / 7739
21
 (HPO:0004404) Abnormality of the nipple Very frequent [Orphanet] 54 / 7739
22
 (HPO:0002650) Scoliosis Very frequent [Orphanet] 705 / 7739
23
 (HPO:0003422) Vertebral segmentation defect Very frequent [Orphanet] 95 / 7739
24
 (HPO:0004349) Reduced bone mineral density Very frequent [Orphanet] 165 / 7739
25
 (HPO:0002808) Kyphosis Very frequent [Orphanet] 289 / 7739
26
 (HPO:0004299) Hernia of the abdominal wall Very frequent [Orphanet] 176 / 7739
27
 (HPO:0004322) Short stature Very frequent [Orphanet] 1232 / 7739
28
 (HPO:0003510) Severe short stature 90 / 7739
29
 (HPO:0000958) Dry skin Very frequent [Orphanet] 152 / 7739
30
 (HPO:0002225) Sparse pubic hair Very frequent [Orphanet] 76 / 7739
31
 (HPO:0002216) Premature graying of hair Very frequent [Orphanet] 43 / 7739
32
 (HPO:0007495) Prematurely aged appearance Very frequent [Orphanet] 44 / 7739
33
 (HPO:0007477) Abnormal dermatoglyphics Very frequent [Orphanet] 72 / 7739
34
 (HPO:0200115) Scalp hair loss 1 / 7739
35
 (HPO:0007605) Excessive wrinkling of palmar skin 2 / 7739
36
 (HPO:0001006) Hypotrichosis Very frequent [Orphanet] 219 / 7739
37
 (HPO:0009721) Shagreen patch Very frequent [Orphanet] 11 / 7739
38
 (HPO:0100578) Lipoatrophy Very frequent [Orphanet] 30 / 7739
39
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
40
 (OMIM) Small 3 / 7739
41
 (HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739
42
 (HPO:0001322) Brain very small 2 / 7739
43
 (OMIM) Large 2 / 7739
44
 (OMIM) Receding 2 / 7739
45
 (OMIM) Narrow 3 / 7739
46
 (OMIM) Dwarfism, birth weight normal 1 / 7739
47
 (OMIM) Premature senility 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM In Montreal Fitch et al. (1970) described a patient with a form of bird-headed dwarfism clearly distinct from Seckel type (see 210600). There were signs of premature senility, namely premature graying and loss of scalp hair and redundant, ...