MENTAL RETARDATION, MICROCEPHALY, GROWTH RETARDATION, JOINT CONTRACTURES,AND FACIAL DYSMORPHISM

General Information (adopted from Orphanet):

Synonyms, Signs: KONDOH SYNDROME
Number of Symptoms 18
OrphanetNr:
OMIM Id: 606242
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0000447) Pear-shaped nose 5 / 7739
2
(HPO:0000343) Long philtrum 262 / 7739
3
(HPO:0000574) Thick eyebrow 96 / 7739
4
(HPO:0001999) Abnormal facial shape 169 / 7739
5
(HPO:0000219) Thin upper lip vermilion 112 / 7739
6
(HPO:0000252) Microcephaly 832 / 7739
7
(HPO:0000349) Widow's peak 26 / 7739
8
(HPO:0000508) Ptosis 459 / 7739
9
(HPO:0001249) Intellectual disability 1089 / 7739
10
(HPO:0006380) Knee flexion contracture 56 / 7739
11
(HPO:0001177) Preaxial hand polydactyly 59 / 7739
12
(HPO:0001220) Interphalangeal joint contracture of finger 5 / 7739
13
(HPO:0004322) Short stature 1232 / 7739
14
(HPO:0001511) Intrauterine growth retardation 358 / 7739
15
(HPO:0008070) Sparse hair 94 / 7739
16
(HPO:0001047) Atopic dermatitis 20 / 7739
17
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
18
(OMIM) Narrow alae nasi 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Bouwes Bavinck et al. (1987) reported a mother and son with an apparently previously undescribed syndrome involving mild mental retardation, microcephaly, short stature, eye defects, hypoplastic and posteriorly rotated low-set ears with overfolded helices, and mild facial dysmorphism, ...
Molecular genetics OMIM In a large family of Australian Aboriginal descent with congenital cataract, dysmorphism, and ectodermal features mapping to chromosome 1p36.32-p35.3, previously described by Burdon et al. (2009), Hattersley et al. (2010) analyzed the candidate genes ZBTB17 (604084), EPHA1 (179610), ...