Ulbright-Hodes syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: RL SYNDROME
Renal dysplasia - mesomelia - radiohumeral fusion
Renal dysplasia - limb defects
Number of Symptoms 65
OrphanetNr: 3404
OMIM Id: 266910
ICD-10: Q87.8
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 3 cases [Orphanet]
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Neonatal
Infancy
[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
Syndromic renal or urinary tract malformation
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
 -Rare renal disease

Symptom Information: Sort by abundance 

1
 (HPO:0008678) Renal hypoplasia/aplasia Frequent [Orphanet] 127 / 7739
2
 (HPO:0008665) Clitoral hypertrophy 10 / 7739
3
 (HPO:0000110) Renal dysplasia 44 / 7739
4
 (HPO:0000089) Renal hypoplasia 78 / 7739
5
 (HPO:0000028) Cryptorchidism 347 / 7739
6
 (HPO:0000107) Renal cyst Very frequent [Orphanet] 126 / 7739
7
 (HPO:0000204) Cleft upper lip Frequent [Orphanet] 193 / 7739
8
 (HPO:0000347) Micrognathia 426 / 7739
9
 (HPO:0005280) Depressed nasal bridge 381 / 7739
10
 (HPO:0000444) Convex nasal ridge Very frequent [Orphanet] 87 / 7739
11
 (HPO:0000277) Abnormality of the mandible Very frequent [Orphanet] 394 / 7739
12
 (HPO:0000160) Narrow mouth Very frequent [Orphanet] 188 / 7739
13
 (HPO:0002705) High, narrow palate Very frequent [Orphanet] 308 / 7739
14
 (HPO:0000494) Downslanted palpebral fissures Very frequent [Orphanet] 328 / 7739
15
 (HPO:0000233) Thin vermilion border 124 / 7739
16
 (HPO:0000269) Prominent occiput 43 / 7739
17
 (HPO:0000218) High palate 356 / 7739
18
 (HPO:0000470) Short neck Frequent [Orphanet] 345 / 7739
19
 (HPO:0000377) Abnormality of the pinna 111 / 7739
20
 (HPO:0000369) Low-set ears 372 / 7739
21
 (HPO:0009800) Maternal diabetes 14 / 7739
22
 (HPO:0000772) Abnormality of the ribs Frequent [Orphanet] 146 / 7739
23
 (HPO:0003862) Absent humerus 1 / 7739
24
 (HPO:0003027) Mesomelia Very frequent [Orphanet] 58 / 7739
25
 (HPO:0000773) Short ribs 70 / 7739
26
 (HPO:0003982) Absent ulna 7 / 7739
27
 (HPO:0000879) Short sternum 16 / 7739
28
 (HPO:0009821) Forearm undergrowth 8 / 7739
29
 (HPO:0002991) Abnormality of the fibula Very frequent [Orphanet] 49 / 7739
30
 (HPO:0009829) Phocomelia 20 / 7739
31
 (HPO:0000883) Thin ribs 31 / 7739
32
 (HPO:0003041) Humeroradial synostosis Frequent [Orphanet] 19 / 7739
33
 (HPO:0003070) Elbow ankylosis 8 / 7739
34
 (HPO:0002997) Abnormality of the ulna Very frequent [Orphanet] 75 / 7739
35
 (HPO:0002984) Hypoplasia of the radius 44 / 7739
36
 (HPO:0010049) Short metacarpal 99 / 7739
37
 (HPO:0002990) Fibular aplasia 16 / 7739
38
 (HPO:0001762) Talipes equinovarus Very frequent [Orphanet] 309 / 7739
39
 (HPO:0002818) Abnormality of the radius Very frequent [Orphanet] 96 / 7739
40
 (HPO:0003312) Abnormal form of the vertebral bodies Very frequent [Orphanet] 172 / 7739
41
 (HPO:0001562) Oligohydramnios Very frequent [Orphanet] 75 / 7739
42
 (HPO:0001195) Single umbilical artery 23 / 7739
43
 (HPO:0004322) Short stature Very frequent [Orphanet] 1232 / 7739
44
 (HPO:0001511) Intrauterine growth retardation Very frequent [Orphanet] 358 / 7739
45
 (HPO:0002107) Pneumothorax 7 / 7739
46
 (HPO:0002093) Respiratory insufficiency Very frequent [Orphanet] 410 / 7739
47
 (HPO:0002089) Pulmonary hypoplasia 80 / 7739
48
 (HPO:0006703) Aplasia/Hypoplasia of the lungs Very frequent [Orphanet] 79 / 7739
49
 (HPO:0002878) Respiratory failure 57 / 7739
50
 (HPO:0002098) Respiratory distress 75 / 7739
51
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
52
 (HPO:0011420) Death Very frequent [Orphanet] 184 / 7739
53
 (OMIM) Wide alar wing 1 / 7739
54
 (OMIM) Long-tented upper lip 1 / 7739
55
 (OMIM) Aplastic-hypoplastic radius 1 / 7739
56
 (OMIM) Circumferential penile groove 1 / 7739
57
 (OMIM) Anterior rounding of lumbar vertebrae 1 / 7739
58
 (HPO:0003811) Neonatal death 44 / 7739
59
 (OMIM) Birth length below 5th percentile 1 / 7739
60
 (OMIM) Birth weight below 5th percentile 1 / 7739
61
 (OMIM) Thin leg 2 / 7739
62
 (HPO:0002334) Abnormality of the cerebellar vermis Frequent [Orphanet] 137 / 7739
63
 (OMIM) Long, thin ribs 1 / 7739
64
 (OMIM) Prominent labia minora 1 / 7739
65
 (OMIM) 'Potter-like' facies 2 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: