Frank-Ter Haar syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: MELNICK-NEEDLES SYNDROME, AUTOSOMAL RECESSIVE, FORMERLY
FTHS
ter haar syndrome
Number of Symptoms 47
OrphanetNr: 137834
OMIM Id: 249420
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 5 cases [Orphanet]
Inheritance: Autosomal recessive
[Orphanet]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: Fronto-otopalatodigital syndrome
 -Rare bone disease
 -Rare developmental defect during embryogenesis
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000293) Full cheeks 85 / 7739
2
 (HPO:0011220) Prominent forehead 137 / 7739
3
 (HPO:0002645) Wormian bones 65 / 7739
4
 (HPO:0000455) Broad nasal tip 67 / 7739
5
 (HPO:0005469) Flat occiput 30 / 7739
6
 (HPO:0000270) Delayed cranial suture closure 33 / 7739
7
 (HPO:0000212) Gingival overgrowth 43 / 7739
8
 (HPO:0000280) Coarse facial features 189 / 7739
9
 (HPO:0000689) Dental malocclusion 114 / 7739
10
 (HPO:0000154) Wide mouth 137 / 7739
11
 (HPO:0000218) High palate 356 / 7739
12
 (HPO:0001090) Large eyes 20 / 7739
13
 (HPO:0000347) Micrognathia 426 / 7739
14
 (HPO:0000494) Downslanted palpebral fissures 328 / 7739
15
 (HPO:0000520) Proptosis 192 / 7739
16
 (HPO:0000260) Wide anterior fontanel 55 / 7739
17
 (HPO:0000316) Hypertelorism 644 / 7739
18
 (HPO:0000501) Glaucoma 180 / 7739
19
 (HPO:0000557) Buphthalmos 16 / 7739
20
 (HPO:0000411) Protruding ear 140 / 7739
21
 (HPO:0000369) Low-set ears 372 / 7739
22
 (HPO:0001270) Motor delay rare [HPO:skoehler] 322 / 7739
23
 (HPO:0001385) Hip dysplasia 242 / 7739
24
 (HPO:0000767) Pectus excavatum 244 / 7739
25
 (HPO:0000938) Osteopenia 138 / 7739
26
 (HPO:0009803) Short phalanx of finger 79 / 7739
27
 (HPO:0000916) Broad clavicles 6 / 7739
28
 (HPO:0001840) Metatarsus adductus 49 / 7739
29
 (HPO:0003026) Short long bone 51 / 7739
30
 (HPO:0005731) Cortical irregularity 2 / 7739
31
 (HPO:0006487) Bowing of the long bones 95 / 7739
32
 (HPO:0001762) Talipes equinovarus 309 / 7739
33
 (HPO:0000939) Osteoporosis 129 / 7739
34
 (HPO:0004611) Anterior concavity of thoracic vertebrae 2 / 7739
35
 (HPO:0003015) Flared metaphysis 44 / 7739
36
 (HPO:0001510) Growth delay 295 / 7739
37
 (HPO:0030680) Abnormality of cardiovascular system morphology 355 / 7739
38
 (HPO:0030680) Abnormality of cardiovascular system morphology 355 / 7739
39
 (OMIM) Mastoid sclerosis 1 / 7739
40
 (HPO:0040016) Prominent coccyx 1 / 7739
41
 (OMIM) Tall vertebrae 2 / 7739
42
 (OMIM) Ribbon-like ribs 3 / 7739
43
 (OMIM) Basal skull sclerosis 1 / 7739
44
 (OMIM) Abnormal sternum 1 / 7739
45
 (OMIM) Pelvic contracture 1 / 7739
46
 (OMIM) Generalized bone dysplasia 1 / 7739
47
 (OMIM) Shortened bowed long bones 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) The primary characteristics of the Frank-ter Haar syndrome are brachycephaly, wide fontanels, prominent forehead, hypertelorism, prominent eyes, macrocornea with or without glaucoma, full cheeks, small chin, bowing of the long bones, and flexion deformity of the fingers. Protruding, ...
Clinical Description OMIM Frank et al. (1973) described an 18-month-old Bedouin girl, born to consanguineous parents, with megalocornea, multiple skeletal anomalies, and developmental delay, and suggested that this combination of anomalies was a hitherto unreported entity. Ter Haar et al. (1982) ...
Molecular genetics OMIM In the Lebanese family of Syrian origin with Frank-ter Haar syndrome originally reported by Megarbane et al. (1997), Iqbal et al. (2010) analyzed SNP array data for copy number variation and identified a homozygous deletion on chromosome 5q ...