Cryptomicrotia - brachydactyly - excess fingertip arch

General Information (adopted from Orphanet):

Synonyms, Signs: Tonoki-Ohura-Niikawa syndrome
Cryptomicrotia-brachydactyly syndrome
Number of Symptoms 16
OrphanetNr: 1547
OMIM Id: 123560
ICD-10: Q87.8
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 2 cases [Orphanet]
Inheritance: Autosomal dominant
[Orphanet]
Age of onset: Neonatal
[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:0000048) Bifid scrotum Frequent [Orphanet] 36 / 7739
2
 (HPO:0000041) Chordee 11 / 7739
3
 (HPO:0000506) Telecanthus Frequent [Orphanet] 156 / 7739
4
 (HPO:0008551) Microtia 98 / 7739
5
 (HPO:0008772) Aplasia/Hypoplasia of the external ear Very frequent [Orphanet] 67 / 7739
6
 (HPO:0004279) Short palm Very frequent [Orphanet] 323 / 7739
7
 (HPO:0005872) Brachytelomesophalangy 2 / 7739
8
 (HPO:0009882) Short distal phalanx of finger Very frequent [Orphanet] 125 / 7739
9
 (HPO:0007477) Abnormal dermatoglyphics Very frequent [Orphanet] 72 / 7739
10
 (HPO:0007587) Numerous pigmented freckles Frequent [Orphanet] 22 / 7739
11
 (HPO:0001800) Hypoplastic toenails Frequent [Orphanet] 74 / 7739
12
 (OMIM) Cryptomicrotia 1 / 7739
13
 (OMIM) Chordee without hypospadias 1 / 7739
14
 (OMIM) Normal intelligence 81 / 7739
15
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
16
 (OMIM) Excess fingertip arch patterns 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: