Occipital horn syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: EDS IX, FORMERLY
CUTIS LAXA, X-LINKED, FORMERLY
EHLERS-DANLOS SYNDROME, OCCIPITAL HORN TYPE, FORMERLY
EDS IX
EDS9, FORMERLY
OHS
Ehlers-Danlos syndrome, type 9
Ehlers-Danlos syndrome type IX
X-linked cutis laxa
Number of Symptoms 86
OrphanetNr: 198
OMIM Id: 304150
ICD-10: E83.0
UMLs: C0268353
MeSH: C537860
MedDRA:
Snomed: 59399004

Prevalence, inheritance and age of onset:

Prevalence: > 20 cases [Orphanet]
Inheritance: X-linked recessive
[Orphanet]
Age of onset: All ages
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Cutis laxa
 -Rare abdominal surgical disease
 -Rare developmental defect during embryogenesis
 -Rare eye disease
 -Rare genetic disease
 -Rare skin disease
 -Rare surgical thoracic disease
Disorder of copper metabolism
 -Rare genetic disease
Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual deficit
 -Rare genetic disease
Multiple congenital anomalies/dysmorphic syndrome - variable intellectual deficit
 -Rare developmental defect during embryogenesis

Symptom Information: Sort by abundance 

1
 (HPO:0000126) Hydronephrosis 119 / 7739
2
 (HPO:0000010) Recurrent urinary tract infections Occasional [Orphanet] 56 / 7739
3
 (HPO:0002862) Bladder carcinoma 2 / 7739
4
 (HPO:0006000) Ureteral obstruction 3 / 7739
5
 (HPO:0000015) Bladder diverticulum Occasional [Orphanet] 15 / 7739
6
 (HPO:0000276) Long face 109 / 7739
7
 (HPO:0000366) Abnormality of the nose Frequent [Orphanet] 56 / 7739
8
 (HPO:0000494) Downslanted palpebral fissures Occasional [Orphanet] 328 / 7739
9
 (HPO:0000218) High palate 356 / 7739
10
 (HPO:0000472) Long neck 8 / 7739
11
 (HPO:0000348) High forehead Occasional [Orphanet] 157 / 7739
12
 (HPO:0000239) Large fontanelles Very frequent [Orphanet] 135 / 7739
13
 (HPO:0000444) Convex nasal ridge 87 / 7739
14
 (HPO:0000271) Abnormality of the face Very frequent [Orphanet] 108 / 7739
15
 (HPO:0002705) High, narrow palate Frequent [Orphanet] 308 / 7739
16
 (HPO:0004474) Persistent open anterior fontanelle 4 / 7739
17
 (HPO:0000343) Long philtrum Frequent [Orphanet] 262 / 7739
18
 (HPO:0000929) Abnormality of the skull Very frequent [Orphanet] 53 / 7739
19
 (HPO:0000275) Narrow face 76 / 7739
20
 (HPO:0000411) Protruding ear Occasional [Orphanet] 140 / 7739
21
 (HPO:0001278) Orthostatic hypotension 24 / 7739
22
 (HPO:0002015) Dysphagia Frequent [Orphanet] 301 / 7739
23
 (HPO:0001377) Limited elbow extension 38 / 7739
24
 (HPO:0001763) Pes planus Occasional [Orphanet] 176 / 7739
25
 (HPO:0000916) Broad clavicles 6 / 7739
26
 (HPO:0001385) Hip dysplasia Occasional [Orphanet] 242 / 7739
27
 (HPO:0000939) Osteoporosis 129 / 7739
28
 (HPO:0003066) Limited knee extension 4 / 7739
29
 (HPO:0000926) Platyspondyly Frequent [Orphanet] 150 / 7739
30
 (HPO:0002650) Scoliosis Occasional [Orphanet] 705 / 7739
31
 (HPO:0003042) Elbow dislocation Frequent [Orphanet] 89 / 7739
32
 (HPO:0003276) Pelvic bone exostoses 4 / 7739
33
 (HPO:0002808) Kyphosis Occasional [Orphanet] 289 / 7739
34
 (HPO:0000767) Pectus excavatum Frequent [Orphanet] 244 / 7739
35
 (HPO:0002673) Coxa valga 57 / 7739
36
 (HPO:0000885) Broad ribs 21 / 7739
37
 (HPO:0002991) Abnormality of the fibula Occasional [Orphanet] 49 / 7739
38
 (HPO:0006660) Aplastic clavicles Occasional [Orphanet] 70 / 7739
39
 (HPO:0004349) Reduced bone mineral density Frequent [Orphanet] 165 / 7739
40
 (HPO:0002992) Abnormality of the tibia Occasional [Orphanet] 51 / 7739
41
 (HPO:0001382) Joint hypermobility Very frequent [Orphanet] 231 / 7739
42
 (HPO:0002797) Osteolysis Occasional [Orphanet] 68 / 7739
43
 (HPO:0001241) Capitate-hamate fusion 6 / 7739
44
 (HPO:0002514) Cerebral calcification Very frequent [Orphanet] 89 / 7739
45
 (HPO:0004279) Short palm Frequent [Orphanet] 323 / 7739
46
 (HPO:0005792) Short humerus 34 / 7739
47
 (HPO:0100777) Exostoses Very frequent [Orphanet] 32 / 7739
48
 (HPO:0000768) Pectus carinatum Frequent [Orphanet] 136 / 7739
49
 (HPO:0003063) Abnormality of the humerus Occasional [Orphanet] 36 / 7739
50
 (HPO:0000774) Narrow chest Frequent [Orphanet] 167 / 7739
51
 (HPO:0001388) Joint laxity 117 / 7739
52
 (HPO:0000894) Short clavicles 30 / 7739
53
 (HPO:0100240) Synostosis of joints Frequent [Orphanet] 11 / 7739
54
 (HPO:0011867) Abnormality of the wing of the ilium Occasional [Orphanet] 123 / 7739
55
 (HPO:0002857) Genu valgum Occasional [Orphanet] 144 / 7739
56
 (HPO:0003019) Abnormality of the wrist Frequent [Orphanet] 52 / 7739
57
 (HPO:0004299) Hernia of the abdominal wall Occasional [Orphanet] 176 / 7739
58
 (HPO:0002036) Hiatus hernia 24 / 7739
59
 (HPO:0002577) Abnormality of the stomach Frequent [Orphanet] 84 / 7739
60
 (HPO:0001396) Cholestasis Frequent [Orphanet] 136 / 7739
61
 (HPO:0002028) Chronic diarrhea 51 / 7739
62
 (HPO:0001582) Redundant skin 51 / 7739
63
 (HPO:0000974) Hyperextensible skin Very frequent [Orphanet] 59 / 7739
64
 (HPO:0000977) Soft skin 23 / 7739
65
 (HPO:0002208) Coarse hair Occasional [Orphanet] 58 / 7739
66
 (HPO:0000978) Bruising susceptibility Frequent [Orphanet] 123 / 7739
67
 (HPO:0000987) Atypical scarring of skin Frequent [Orphanet] 58 / 7739
68
 (HPO:0005302) Carotid artery tortuosity 1 / 7739
69
 (HPO:0002617) Aneurysm Frequent [Orphanet] 34 / 7739
70
 (HPO:0005293) Venous insufficiency Frequent [Orphanet] 27 / 7739
71
 (HPO:0002045) Hypothermia Frequent [Orphanet] 27 / 7739
72
 (HPO:0001252) Muscular hypotonia Frequent [Orphanet] 990 / 7739
73
 (HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739
74
 (OMIM) Mildly extensible skin 1 / 7739
75
 (OMIM) Elongated, tortuous carotid arteries 1 / 7739
76
 (OMIM) Bladder rupture 1 / 7739
77
 (OMIM) Low-normal IQ 1 / 7739
78
 (OMIM) Short, broad ribs 1 / 7739
79
 (OMIM) Intracranial arterial narrowing 1 / 7739
80
 (OMIM) Occipital horn exostoses 1 / 7739
81
 (OMIM) Short, broad clavicles 1 / 7739
82
 (MedDRA:10008217) Ceruloplasmin decreased 1 / 7739
83
 (OMIM) Mild platyspondyly 14 / 7739
84
 (HPO:0001419) X-linked recessive inheritance 189 / 7739
85
 (OMIM) Long, thin face 3 / 7739
86
 (OMIM) Decreased serum copper 2 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Occipital horn syndrome is a rare connective tissue disorder characterized by hyperelastic and bruisable skin, hernias, bladder diverticula, hyperextensible joints, varicosities, and multiple skeletal abnormalities. The disorder is sometimes accompanied by mild neurologic impairment, and bony abnormalities of ...
Clinical Description OMIM Lazoff et al. (1975) described an unusual syndrome in an 11-year-old male and 2 maternal uncles. Bony 'horns,' symmetrically situated on each side of the foramen magnum and pointing caudad, were demonstrable radiographically. A lifelong history of frequent ...
Molecular genetics OMIM Kaler et al. (1994) reported a 15-year-old male with OHS who had an A-to-G change at base 2642 of the MNK locus, predicting a neutral glycine for serine substitution at nucleotide 833. Actually, this mutation at the -2 ...