Synostosis - microcephaly - scoliosis

General Information (adopted from Orphanet):

Synonyms, Signs: GIUFFRE-TSUKAHARA SYNDROME
tsukahara syndrome
Giuffré-Tsukahara syndrome
Number of Symptoms 18
OrphanetNr: 3268
OMIM Id: 603438
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance:
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: Syndrome with synostosis or other joint formation defect
 -Rare bone disease
 -Rare developmental defect during embryogenesis

Symptom Information: Sort by abundance 

1
(HPO:0000252) Microcephaly Very frequent [Orphanet] 832 / 7739
2
(HPO:0000286) Epicanthus Very frequent [Orphanet] 371 / 7739
3
(HPO:0000574) Thick eyebrow Very frequent [Orphanet] 96 / 7739
4
(HPO:0000288) Abnormality of the philtrum Very frequent [Orphanet] 54 / 7739
5
(HPO:0000664) Synophrys Very frequent [Orphanet] 112 / 7739
6
(HPO:0000164) Abnormality of the teeth Very frequent [Orphanet] 291 / 7739
7
(HPO:0002974) Radioulnar synostosis Very frequent [Orphanet] 52 / 7739
8
(HPO:0006101) Finger syndactyly Very frequent [Orphanet] 198 / 7739
9
(HPO:0002650) Scoliosis Very frequent [Orphanet] 705 / 7739
10
(HPO:0000921) Missing ribs Very frequent [Orphanet] 62 / 7739
11
(HPO:0002750) Delayed skeletal maturation Very frequent [Orphanet] 250 / 7739
12
(HPO:0009811) Abnormality of the elbow Very frequent [Orphanet] 30 / 7739
13
(HPO:0000768) Pectus carinatum Very frequent [Orphanet] 136 / 7739
14
(HPO:0004209) Clinodactyly of the 5th finger Very frequent [Orphanet] 288 / 7739
15
(HPO:0001622) Premature birth Very frequent [Orphanet] 100 / 7739
16
(HPO:0004322) Short stature Very frequent [Orphanet] 1232 / 7739
17
(HPO:0007477) Abnormal dermatoglyphics Very frequent [Orphanet] 72 / 7739
18
(HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Tsukahara et al. (1995) reported the case of a 9-year-old boy with radioulnar synostosis, short stature, microcephaly, clinodactyly of the fifth fingers, partial webbing, scoliosis, and mental retardation. Tsukahara et al. (1995) considered the disorder in their patient ...