Craniofacial dysplasia-osteopenia syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: HYPERTELORISM, SEVERE, WITH MIDFACE PROMINENCE, MYOPIA, MENTAL RETARDATION, AND BONE FRAGILITY
HMMS
Hamamy syndrome
Number of Symptoms 72
OrphanetNr: 314555
OMIM Id: 611174
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Cranial malformation
 -Rare developmental defect during embryogenesis
Genetic cranial malformation
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000028) Cryptorchidism 347 / 7739
2
 (HPO:0000689) Dental malocclusion rare [HPO:skoehler] 114 / 7739
3
 (HPO:0000154) Wide mouth 137 / 7739
4
 (HPO:0000218) High palate 356 / 7739
5
 (HPO:0001363) Craniosynostosis rare [HPO:skoehler] 132 / 7739
6
 (HPO:0005338) Sparse lateral eyebrow 21 / 7739
7
 (HPO:0000463) Anteverted nares 305 / 7739
8
 (HPO:0000465) Webbed neck 81 / 7739
9
 (HPO:0010807) Open bite 6 / 7739
10
 (HPO:0000248) Brachycephaly 222 / 7739
11
 (HPO:0000343) Long philtrum 262 / 7739
12
 (HPO:0000668) Hypodontia rare [HPO:skoehler] 81 / 7739
13
 (HPO:0000677) Oligodontia 41 / 7739
14
 (HPO:0002162) Low posterior hairline 88 / 7739
15
 (HPO:0004440) Coronal craniosynostosis 38 / 7739
16
 (HPO:0011324) Multiple suture craniosynostosis 22 / 7739
17
 (HPO:0000431) Wide nasal bridge 290 / 7739
18
 (HPO:0000316) Hypertelorism 644 / 7739
19
 (HPO:0000319) Smooth philtrum 72 / 7739
20
 (HPO:0011003) Severe Myopia 31 / 7739
21
 (HPO:0000369) Low-set ears 372 / 7739
22
 (HPO:0000407) Sensorineural hearing impairment 524 / 7739
23
 (HPO:0000356) Abnormality of the outer ear 85 / 7739
24
 (HPO:0000384) Preauricular skin tag rare [HPO:skoehler] 62 / 7739
25
 (HPO:0002015) Dysphagia rare [HPO:skoehler] 301 / 7739
26
 (HPO:0011343) Moderate global developmental delay 5 / 7739
27
 (HPO:0002376) Developmental regression 74 / 7739
28
 (HPO:0000829) Hypoparathyroidism 22 / 7739
29
 (HPO:0009700) Finger symphalangism 55 / 7739
30
 (HPO:0004209) Clinodactyly of the 5th finger 288 / 7739
31
 (HPO:0009536) Short 2nd finger 6 / 7739
32
 (HPO:0001385) Hip dysplasia 242 / 7739
33
 (HPO:0001770) Toe syndactyly 149 / 7739
34
 (HPO:0004691) 2-3 toe syndactyly 50 / 7739
35
 (HPO:0001182) Tapered finger rare [HPO:skoehler] 93 / 7739
36
 (HPO:0100807) Long fingers 23 / 7739
37
 (HPO:0010621) Cutaneous syndactyly of toes 36 / 7739
38
 (HPO:0000938) Osteopenia 138 / 7739
39
 (HPO:0010511) Long toe rare [HPO:skoehler] 9 / 7739
40
 (HPO:0001159) Syndactyly rare [HPO:skoehler] 140 / 7739
41
 (HPO:0000767) Pectus excavatum rare [HPO:skoehler] 244 / 7739
42
 (HPO:0200021) Down-sloping shoulders 18 / 7739
43
 (HPO:0011431) Fetal fifth finger clinodactyly 14 / 7739
44
 (HPO:0000023) Inguinal hernia 181 / 7739
45
 (HPO:0001631) Atria septal defect rare [HPO:skoehler] 274 / 7739
46
 (HPO:0001671) Abnormality of the cardiac septa 55 / 7739
47
 (HPO:0001653) Mitral regurgitation rare [HPO:skoehler] 64 / 7739
48
 (HPO:0001935) Microcytic anemia 32 / 7739
49
 (HPO:0001931) Hypochromic anemia 5 / 7739
50
 (HPO:0004840) Hypochromic microcytic anemia 15 / 7739
51
 (OMIM) Extra frontal hair whorl 1 / 7739
52
 (OMIM) Worn-out teeth (in some patients) 1 / 7739
53
 (OMIM) Patent ductus arteriosus, small (in some patients) 1 / 7739
54
 (OMIM) Myopia, progressive severe 1 / 7739
55
 (OMIM) Long bone fractures 1 / 7739
56
 (OMIM) Parotid gland dysfunction (in some patients) 1 / 7739
57
 (OMIM) Intraventricular conduction delay 7 / 7739
58
 (OMIM) Pectus excavatum (in some patients 1 / 7739
59
 (OMIM) Pointed nasal tip 1 / 7739
60
 (OMIM) Micrognathia, mild 8 / 7739
61
 (OMIM) Loss of lamina dura 1 / 7739
62
 (OMIM) Unclear speech 1 / 7739
63
 (OMIM) Thin upper vermilion border 1 / 7739
64
 (OMIM) Absence or dysfunction of nasolacrimal structures 1 / 7739
65
 (OMIM) Thumb deviation 1 / 7739
66
 (OMIM) Bulging midface (in some patients) 1 / 7739
67
 (OMIM) Severe hypertelorism 1 / 7739
68
 (OMIM) Ectopic finger creases 1 / 7739
69
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
70
 (OMIM) Absent gonad activity 1 / 7739
71
 (OMIM) Atrioventricular canal, total (in some patients) 1 / 7739
72
 (OMIM) Thin or hypoplastic enamel 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Hamamy et al. (2007) described 2 brothers, born to double first-cousin Jordanian Arab parents, with severe hypertelorism, upslanting palpebral fissures, brachycephaly, abnormal ears, sloping shoulders, enamel hypoplasia, and osteopenia with repeated fractures. Both had severe myopia, mild to ...
Molecular genetics OMIM In 5 affected individuals from 2 consanguineous families, 1 Turkish and the other a Jordanian family previously reported by Hamamy et al. (2007), with an autosomal recessive craniofacial syndrome mapping to chromosome 16q12.2-q21, Bonnard et al. (2012) screened ...