Distal monosomy 6p

General Information (adopted from Orphanet):

Synonyms, Signs: Distal deletion 6p
Monosomy 6p25
6p subtelomeric deletion syndrome
6p25 microdeletion syndrome
Number of Symptoms 80
OrphanetNr: 96125
OMIM Id: 612582
ICD-10: Q93.5
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: > 35 cases [Orphanet]
Inheritance: Unknown
Not applicable
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Iridogoniodysgenesis
 -Rare developmental defect during embryogenesis
 -Rare eye disease
 -Rare genetic disease
Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
Partial deletion of the short arm of chromosome 6
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
Rare disease with glaucoma as a major feature
 -Rare eye disease
 -Rare genetic disease
Rare intellectual deficit with developmental anomaly
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000272) Malar flattening 277 / 7739
2
 (HPO:0000288) Abnormality of the philtrum Frequent [Orphanet] 54 / 7739
3
 (HPO:0006482) Abnormality of dental morphology Frequent [Orphanet] 81 / 7739
4
 (HPO:0010804) Tented upper lip vermilion 47 / 7739
5
 (HPO:0000430) Underdeveloped nasal alae Frequent [Orphanet] 90 / 7739
6
 (HPO:0005280) Depressed nasal bridge Frequent [Orphanet] 381 / 7739
7
 (HPO:0002714) Downturned corners of mouth Frequent [Orphanet] 98 / 7739
8
 (HPO:0000322) Short philtrum Frequent [Orphanet] 130 / 7739
9
 (HPO:0000463) Anteverted nares Frequent [Orphanet] 305 / 7739
10
 (HPO:0000248) Brachycephaly 222 / 7739
11
 (HPO:0000202) Oral cleft Occasional [Orphanet] 120 / 7739
12
 (HPO:0000494) Downslanted palpebral fissures Frequent [Orphanet] 328 / 7739
13
 (HPO:0000204) Cleft upper lip 193 / 7739
14
 (HPO:0009804) Reduced number of teeth Frequent [Orphanet] 137 / 7739
15
 (HPO:0000277) Abnormality of the mandible Occasional [Orphanet] 394 / 7739
16
 (HPO:0000470) Short neck 345 / 7739
17
 (HPO:0002007) Frontal bossing 366 / 7739
18
 (HPO:0001305) Dandy-Walker malformation 79 / 7739
19
 (HPO:0000316) Hypertelorism Very frequent [Orphanet] 644 / 7739
20
 (HPO:0000286) Epicanthus Frequent [Orphanet] 371 / 7739
21
 (HPO:0000218) High palate 356 / 7739
22
 (HPO:0000337) Broad forehead Frequent [Orphanet] 116 / 7739
23
 (HPO:0011800) Midface retrusion Frequent [Orphanet] 221 / 7739
24
 (HPO:0000445) Wide nose Frequent [Orphanet] 190 / 7739
25
 (HPO:0000678) Dental crowding 65 / 7739
26
 (HPO:0000540) Hypermetropia Frequent [Orphanet] 99 / 7739
27
 (HPO:0007957) Corneal opacity 84 / 7739
28
 (HPO:0011484) Posterior synechiae of the anterior chamber Frequent [Orphanet] 5 / 7739
29
 (HPO:0000481) Abnormality of the cornea Frequent [Orphanet] 124 / 7739
30
 (HPO:0000501) Glaucoma Frequent [Orphanet] 180 / 7739
31
 (HPO:0000593) Abnormality of the anterior chamber Very frequent [Orphanet] 15 / 7739
32
 (HPO:0000486) Strabismus Frequent [Orphanet] 576 / 7739
33
 (HPO:0008053) Aplasia/Hypoplasia of the iris Frequent [Orphanet] 38 / 7739
34
 (HPO:0000577) Exotropia 43 / 7739
35
 (HPO:0007759) Opacification of the corneal stroma 77 / 7739
36
 (HPO:0000627) Posterior embryotoxon Frequent [Orphanet] 15 / 7739
37
 (HPO:0001492) Axenfeld anomaly 6 / 7739
38
 (HPO:0000407) Sensorineural hearing impairment 524 / 7739
39
 (HPO:0008625) Severe sensorineural hearing impairment 150 / 7739
40
 (HPO:0000365) Hearing impairment Frequent [Orphanet] 539 / 7739
41
 (HPO:0000369) Low-set ears 372 / 7739
42
 (HPO:0000357) Abnormal location of ears Very frequent [Orphanet] 328 / 7739
43
 (HPO:0000358) Posteriorly rotated ears 163 / 7739
44
 (HPO:0008527) Congenital sensorineural hearing impairment 165 / 7739
45
 (HPO:0000750) Delayed speech and language development 197 / 7739
46
 (HPO:0001327) Photomyoclonic seizures 125 / 7739
47
 (HPO:0001270) Motor delay 322 / 7739
48
 (HPO:0100716) Self-injurious behavior Occasional [Orphanet] 43 / 7739
49
 (HPO:0001249) Intellectual disability 1089 / 7739
50
 (HPO:0001250) Seizures 1245 / 7739
51
 (HPO:0001328) Specific learning disability 114 / 7739
52
 (HPO:0001263) Global developmental delay 853 / 7739
53
 (HPO:0001762) Talipes equinovarus Occasional [Orphanet] 309 / 7739
54
 (HPO:0006494) Aplasia/Hypoplasia involving bones of the feet Occasional [Orphanet] 69 / 7739
55
 (HPO:0002650) Scoliosis Occasional [Orphanet] 705 / 7739
56
 (HPO:0003422) Vertebral segmentation defect Occasional [Orphanet] 95 / 7739
57
 (HPO:0004279) Short palm Occasional [Orphanet] 323 / 7739
58
 (HPO:0004209) Clinodactyly of the 5th finger Frequent [Orphanet] 288 / 7739
59
 (HPO:0001838) Rocker bottom foot 85 / 7739
60
 (HPO:0005930) Abnormality of epiphysis morphology Occasional [Orphanet] 119 / 7739
61
 (HPO:0001385) Hip dysplasia 242 / 7739
62
 (HPO:0001655) Patent foramen ovale 31 / 7739
63
 (HPO:0001631) Atria septal defect Frequent [Orphanet] 274 / 7739
64
 (HPO:0001643) Patent ductus arteriosus 228 / 7739
65
 (HPO:0001636) Tetralogy of Fallot 104 / 7739
66
 (HPO:0003220) Abnormality of chromosome stability Very frequent [Orphanet] 98 / 7739
67
 (HPO:0008947) Infantile muscular hypotonia 482 / 7739
68
 (HPO:0010547) Muscle flaccidity 466 / 7739
69
 (HPO:0001252) Muscular hypotonia 990 / 7739
70
 (HPO:0001324) Muscle weakness 859 / 7739
71
 (HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739
72
 (HPO:0003812) Phenotypic variability 129 / 7739
73
 (OMIM) Valvular defects 3 / 7739
74
 (OMIM) Decreased enamel 1 / 7739
75
 (HPO:0003745) Sporadic 131 / 7739
76
 (OMIM) Refractive error 4 / 7739
77
 (OMIM) Anterior eye defects 1 / 7739
78
 (OMIM) Overcrowded teeth 3 / 7739
79
 (OMIM) Anterior chamber dysgenesis 2 / 7739
80
 (HPO:0002119) Ventriculomegaly Occasional [Orphanet] 253 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Davies et al. (1999) reported 6 patients with interstitial or terminal 6pter-p24 deletions. All patients had developmental delay and hypotonia, and most had an abnormal skull shape, such as brachycephaly, dolichocephaly, or frontal bossing. Variable features included downslanting ...
Molecular genetics OMIM Aldinger et al. (2009) analyzed brain imaging studies in 18 individuals with chromosome 6p25 copy number variation involving the FOXC1 gene and 3 patients with intragenic mutations of FOXC1, all of whom had been previously reported by Pearce ...