Nance-Horan syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: MESIODENS-CATARACT SYNDROME
CATARACT-DENTAL SYNDROME
CATARACT, X-LINKED, WITH HUTCHINSONIAN TEETH
NHS
Number of Symptoms 40
OrphanetNr: 627
OMIM Id: 302350
ICD-10: Q87.0
UMLs: C0796085
MeSH: C538336
MedDRA:
Snomed: 445257004

Prevalence, inheritance and age of onset:

Prevalence: 50 families [Orphanet]
Inheritance: X-linked dominant
[Orphanet]
Age of onset: Neonatal
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Dentocutaneous disease with cataract
 -Rare eye disease
 -Rare genetic disease
Genetic malformation syndrome with odontal and/or periodontal component
 -Rare genetic disease
Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual deficit
 -Rare genetic disease
Malformation syndrome with odontal and/or periodontal component
 -Rare developmental defect during embryogenesis
 -Rare odontologic disease
Multiple congenital anomalies/dysmorphic syndrome - variable intellectual deficit
 -Rare developmental defect during embryogenesis
X-linked syndromic intellectual deficit
 -Rare genetic disease
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000164) Abnormality of the teeth Very frequent [Orphanet] 291 / 7739
2
 (HPO:0000303) Mandibular prognathia Very frequent [Orphanet] 179 / 7739
3
 (HPO:0000568) Microphthalmia 183 / 7739
4
 (HPO:0000426) Prominent nasal bridge Very frequent [Orphanet] 121 / 7739
5
 (HPO:0000699) Diastema 10 / 7739
6
 (HPO:0000275) Narrow face 76 / 7739
7
 (HPO:0006332) Supernumerary maxillary incisor 1 / 7739
8
 (HPO:0006346) Screwdriver-shaped incisors 1 / 7739
9
 (HPO:0005105) Abnormal nasal morphology Very frequent [Orphanet] 114 / 7739
10
 (HPO:0000276) Long face Very frequent [Orphanet] 109 / 7739
11
 (HPO:0011069) Increased number of teeth Frequent [Orphanet] 39 / 7739
12
 (HPO:0000448) Prominent nose 56 / 7739
13
 (HPO:0008056) Aplasia/Hypoplasia affecting the eye Occasional [Orphanet] 142 / 7739
14
 (HPO:0000639) Nystagmus Very frequent [Orphanet] 555 / 7739
15
 (HPO:0000501) Glaucoma Occasional [Orphanet] 180 / 7739
16
 (HPO:0000541) Retinal detachment Occasional [Orphanet] 87 / 7739
17
 (HPO:0007906) Increased intraocular pressure 30 / 7739
18
 (HPO:0000518) Cataract Very frequent [Orphanet] 454 / 7739
19
 (HPO:0008031) Posterior Y-sutural cataract 2 / 7739
20
 (HPO:0000519) Congenital cataract 73 / 7739
21
 (HPO:0000482) Microcornea Very frequent [Orphanet] 102 / 7739
22
 (HPO:0000486) Strabismus Frequent [Orphanet] 576 / 7739
23
 (HPO:0000572) Visual loss Very frequent [Orphanet] 272 / 7739
24
 (HPO:0000411) Protruding ear Frequent [Orphanet] 140 / 7739
25
 (HPO:0000400) Macrotia 108 / 7739
26
 (HPO:0000708) Behavioral abnormality Occasional [Orphanet] 212 / 7739
27
 (HPO:0002342) Intellectual disability, moderate 80% [HPO:skoehler] 37 / 7739
28
 (HPO:0000717) Autism 108 / 7739
29
 (HPO:0009803) Short phalanx of finger 79 / 7739
30
 (HPO:0001500) Broad finger 9 / 7739
31
 (HPO:0001163) Abnormality of the metacarpal bones Frequent [Orphanet] 149 / 7739
32
 (OMIM) Normal vision 3 / 7739
33
 (OMIM) Large anteverted pinnae (90% males, 40% females) 1 / 7739
34
 (OMIM) Screwdriver blade-shaped incisors (males and females) 1 / 7739
35
 (OMIM) Tapered premolar and molar cusps 1 / 7739
36
 (OMIM) Long narrow face 11 / 7739
37
 (HPO:0001423) X-linked dominant inheritance 69 / 7739
38
 (HPO:0012758) Neurodevelopmental delay Frequent [Orphanet] 949 / 7739
39
 (OMIM) Mental retardation, mild-moderate 6 / 7739
40
 (OMIM) Vision loss, profound 2 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Nance-Horan syndrome is an X-linked disorder characterized by congenital cataracts, dental anomalies, dysmorphic features, and, in some cases, mental retardation (summary by Burdon et al., 2003).
Clinical Description OMIM Affected males have dense nuclear cataracts and frequently microcornea. Carrier females may show posterior Y-sutural cataracts with small corneas and only slightly reduced vision. Horan and Billson (1974) described a family in which 2 brothers had sutural cataracts ...
Molecular genetics OMIM Studying the extended Australian family in which Horan and Billson (1974) first identified Nance-Horan syndrome, Burdon et al. (2003) confirmed localization of the disease locus to a 1.3-Mb interval on Xp22.13. In that family and 4 others with ...