Hall-Riggs syndrome

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 52
OrphanetNr: 2107
OMIM Id: 234250
ICD-10: Q87.0
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
Rare genetic intellectual deficit with developmental anomaly
 -Rare genetic disease
Rare intellectual deficit with developmental anomaly
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0011968) Feeding difficulties 240 / 7739
2
 (HPO:0008872) Feeding difficulties in infancy 153 / 7739
3
 (HPO:0002017) Nausea and vomiting Frequent [Orphanet] 134 / 7739
4
 (HPO:0000316) Hypertelorism Frequent [Orphanet] 644 / 7739
5
 (HPO:0004322) Short stature Very frequent [Orphanet] 1232 / 7739
6
 (HPO:0008905) Rhizomelia Frequent [Orphanet] 85 / 7739
7
 (HPO:0004325) Decreased body weight Frequent [Orphanet] 492 / 7739
8
 (HPO:0001508) Failure to thrive 454 / 7739
9
 (HPO:0001249) Intellectual disability 1089 / 7739
10
 (HPO:0001344) Absent speech 57 / 7739
11
 (HPO:0002167) Neurological speech impairment Very frequent [Orphanet] 308 / 7739
12
 (HPO:0001250) Seizures Frequent [Orphanet] 1245 / 7739
13
 (HPO:0001511) Intrauterine growth retardation 358 / 7739
14
 (HPO:0001156) Brachydactyly syndrome 180 / 7739
15
 (HPO:0000944) Abnormality of the metaphyses Frequent [Orphanet] 141 / 7739
16
 (HPO:0100255) Metaphyseal dysplasia 26 / 7739
17
 (HPO:0004279) Short palm Frequent [Orphanet] 323 / 7739
18
 (HPO:0000252) Microcephaly Very frequent [Orphanet] 832 / 7739
19
 (HPO:0003301) Irregular vertebral endplates 25 / 7739
20
 (HPO:0000926) Platyspondyly Frequent [Orphanet] 150 / 7739
21
 (HPO:0002808) Kyphosis 289 / 7739
22
 (HPO:0002650) Scoliosis Frequent [Orphanet] 705 / 7739
23
 (HPO:0000939) Osteoporosis 129 / 7739
24
 (HPO:0001387) Joint stiffness Occasional [Orphanet] 322 / 7739
25
 (HPO:0005930) Abnormality of epiphysis morphology Frequent [Orphanet] 119 / 7739
26
 (HPO:0002750) Delayed skeletal maturation Frequent [Orphanet] 250 / 7739
27
 (HPO:0002208) Coarse hair Frequent [Orphanet] 58 / 7739
28
 (HPO:0002217) Slow-growing hair Frequent [Orphanet] 22 / 7739
29
 (HPO:0000179) Thick lower lip vermilion 72 / 7739
30
 (HPO:0010806) U-Shaped upper lip vermilion 18 / 7739
31
 (HPO:0012471) Thick vermilion border Very frequent [Orphanet] 115 / 7739
32
 (HPO:0000682) Abnormality of dental enamel Occasional [Orphanet] 102 / 7739
33
 (HPO:0006297) Hypoplasia of dental enamel 64 / 7739
34
 (HPO:0006334) Hypoplasia of the primary teeth 2 / 7739
35
 (HPO:0006347) Microdontia of primary teeth 4 / 7739
36
 (HPO:0000684) Delayed eruption of teeth Occasional [Orphanet] 117 / 7739
37
 (HPO:0002714) Downturned corners of mouth Frequent [Orphanet] 98 / 7739
38
 (HPO:0000154) Wide mouth Frequent [Orphanet] 137 / 7739
39
 (HPO:0005105) Abnormal nasal morphology Frequent [Orphanet] 114 / 7739
40
 (HPO:0000463) Anteverted nares Very frequent [Orphanet] 305 / 7739
41
 (HPO:0005280) Depressed nasal bridge 381 / 7739
42
 (HPO:0000448) Prominent nose 56 / 7739
43
 (HPO:0000431) Wide nasal bridge Very frequent [Orphanet] 290 / 7739
44
 (HPO:0000286) Epicanthus Very frequent [Orphanet] 371 / 7739
45
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
46
 (HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739
47
 (OMIM) Brachydactyly, mild 5 / 7739
48
 (OMIM) Epiphyseal hypoplasia 1 / 7739
49
 (OMIM) Large cavum vergae 1 / 7739
50
 (OMIM) Large nose with large nasal tip 1 / 7739
51
 (OMIM) Mild metaphyseal dysplasia 1 / 7739
52
 (OMIM) Septum pellucidum cyst 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Hall and Riggs (1975) reported a family in which 6 of 15 offspring of first-cousin unaffected parents had a characteristic syndrome consisting of severe mental retardation, microcephaly, depressed nasal bridge with anteverted nostrils, large lips, and progressive abnormalities ...