Hydrocephalus - costovertebral dysplasia - Sprengel anomaly

General Information (adopted from Orphanet):

Synonyms, Signs: Ferlini-Ragno-Calzolari syndrome
Waaler-Aarskog syndrome
Number of Symptoms 52
OrphanetNr: 2180
OMIM Id: 600991
ICD-10: Q87.8
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 8 cases [Orphanet]
Inheritance: Unknown
[Orphanet]
Age of onset: Neonatal
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: 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:0000445) Wide nose Frequent [Orphanet] 190 / 7739
2
 (HPO:0000431) Wide nasal bridge rare [HPO:skoehler] 290 / 7739
3
 (HPO:0002705) High, narrow palate Frequent [Orphanet] 308 / 7739
4
 (HPO:0005105) Abnormal nasal morphology Frequent [Orphanet] 114 / 7739
5
 (HPO:0006297) Hypoplasia of dental enamel rare [HPO:skoehler] 64 / 7739
6
 (HPO:0000218) High palate 356 / 7739
7
 (HPO:0000455) Broad nasal tip 67 / 7739
8
 (HPO:0000463) Anteverted nares Frequent [Orphanet] rare [HPO:skoehler] 305 / 7739
9
 (HPO:0000316) Hypertelorism Frequent [Orphanet] 644 / 7739
10
 (HPO:0000348) High forehead Frequent [Orphanet] rare [HPO:skoehler] 157 / 7739
11
 (HPO:0000682) Abnormality of dental enamel Frequent [Orphanet] 102 / 7739
12
 (HPO:0000286) Epicanthus rare [HPO:skoehler] 371 / 7739
13
 (HPO:0000272) Malar flattening Frequent [Orphanet] rare [HPO:skoehler] 277 / 7739
14
 (HPO:0000414) Bulbous nose rare [HPO:skoehler] 63 / 7739
15
 (HPO:0000303) Mandibular prognathia Very frequent [Orphanet] 179 / 7739
16
 (HPO:0000256) Macrocephaly Frequent [Orphanet] 298 / 7739
17
 (HPO:0005280) Depressed nasal bridge Frequent [Orphanet] rare [HPO:skoehler] 381 / 7739
18
 (HPO:0000545) Myopia Occasional [Orphanet] 286 / 7739
19
 (HPO:0000486) Strabismus Occasional [Orphanet] 576 / 7739
20
 (HPO:0000368) Low-set, posteriorly rotated ears 38 / 7739
21
 (HPO:0000369) Low-set ears rare [HPO:skoehler] 372 / 7739
22
 (HPO:0000357) Abnormal location of ears Frequent [Orphanet] 328 / 7739
23
 (HPO:0000709) Psychosis 61 / 7739
24
 (HPO:0000708) Behavioral abnormality Frequent [Orphanet] 212 / 7739
25
 (HPO:0001249) Intellectual disability rare [HPO:skoehler] 1089 / 7739
26
 (HPO:0002373) Febrile seizures 37 / 7739
27
 (HPO:0002194) Delayed gross motor development rare [HPO:skoehler] 37 / 7739
28
 (HPO:0001263) Global developmental delay 853 / 7739
29
 (HPO:0004404) Abnormality of the nipple Occasional [Orphanet] 54 / 7739
30
 (HPO:0003312) Abnormal form of the vertebral bodies Frequent [Orphanet] 172 / 7739
31
 (HPO:0001852) Sandal gap Frequent [Orphanet] rare [HPO:skoehler] 63 / 7739
32
 (HPO:0002650) Scoliosis Frequent [Orphanet] 705 / 7739
33
 (HPO:0002751) Kyphoscoliosis 131 / 7739
34
 (HPO:0000772) Abnormality of the ribs Frequent [Orphanet] 146 / 7739
35
 (HPO:0003422) Vertebral segmentation defect Frequent [Orphanet] 95 / 7739
36
 (HPO:0004279) Short palm Frequent [Orphanet] 323 / 7739
37
 (HPO:0001156) Brachydactyly syndrome 180 / 7739
38
 (HPO:0000912) Sprengel anomaly Very frequent [Orphanet] 51 / 7739
39
 (HPO:0001513) Obesity Frequent [Orphanet] 172 / 7739
40
 (HPO:0001000) Abnormality of skin pigmentation Frequent [Orphanet] 105 / 7739
41
 (HPO:0000995) Melanocytic nevus Frequent [Orphanet] 63 / 7739
42
 (OMIM) Malformed thoracic vertebrae 1 / 7739
43
 (HPO:0000238) Hydrocephalus Very frequent [Orphanet] 278 / 7739
44
 (OMIM) Dilatation of the 3rd ventricle (in one family) 2 / 7739
45
 (HPO:0012758) Neurodevelopmental delay Frequent [Orphanet] 949 / 7739
46
 (HPO:0002500) Abnormality of the cerebral white matter 73 / 7739
47
 (OMIM) Dilatation of the lateral ventricles (in one family) 1 / 7739
48
 (MedDRA:10072883) Brachydactyly 153 / 7739
49
 (OMIM) Malformed ribs 1 / 7739
50
 (OMIM) Prominent mandible 5 / 7739
51
 (HPO:0100702) Arachnoid cyst rare [HPO:skoehler] 15 / 7739
52
 (OMIM) Costovertebral dysplasia 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Waaler and Aarskog (1980) reported a Norwegian family in which the mother had hydrocephalus, rib malformations, dysplasia of thoracic vertebrae and Sprengel anomaly, and each of her 3 daughters had 1 or more of these 4 features. The ...