Hydrocephaly - tall stature - joint laxity

General Information (adopted from Orphanet):

Synonyms, Signs: Daish-Hardman-Lamont syndrome
Number of Symptoms 19
OrphanetNr: 2181
OMIM Id: 236660
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 2 cases [Orphanet]
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual deficit
 -Rare genetic disease
Multiple congenital anomalies/dysmorphic syndrome without intellectual deficit
 -Rare developmental defect during embryogenesis

Symptom Information: Sort by abundance 

1
(HPO:0002007) Frontal bossing Frequent [Orphanet] 366 / 7739
2
(HPO:0002705) High, narrow palate Frequent [Orphanet] 308 / 7739
3
(HPO:0004374) Hemiplegia/hemiparesis Frequent [Orphanet] 158 / 7739
4
(HPO:0011442) Abnormality of central motor function Very frequent [Orphanet] 76 / 7739
5
(HPO:0001288) Gait disturbance Frequent [Orphanet] 318 / 7739
6
(HPO:0001388) Joint laxity 117 / 7739
7
(HPO:0002650) Scoliosis Frequent [Orphanet] 705 / 7739
8
(HPO:0002808) Kyphosis Very frequent [Orphanet] 289 / 7739
9
(HPO:0001172) Abnormality of the thumb Very frequent [Orphanet] 103 / 7739
10
(HPO:0005619) Thoracolumbar kyphosis 8 / 7739
11
(HPO:0001382) Joint hypermobility Very frequent [Orphanet] 231 / 7739
12
(HPO:0003834) Shoulder dislocation Frequent [Orphanet] 28 / 7739
13
(HPO:0011302) Long palm Very frequent [Orphanet] 70 / 7739
14
(HPO:0001537) Umbilical hernia Frequent [Orphanet] 206 / 7739
15
(HPO:0001519) Disproportionate tall stature Very frequent [Orphanet] 39 / 7739
16
(HPO:0000098) Tall stature Very frequent [Orphanet] 74 / 7739
17
(HPO:0001633) Abnormality of the mitral valve Frequent [Orphanet] 69 / 7739
18
(HPO:0000238) Hydrocephalus Very frequent [Orphanet] 278 / 7739
19
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Daish et al. (1989) described 2 sisters, aged 4 years and 12 months, with hydrocephalus, tall stature, joint laxity, and thoracolumbar kyphosis. They were the only children of a 34-year-old father and a 30-year-old mother who were unrelated. ...