HAJDU-CHENEY SYNDROME

General Information (adopted from Orphanet):

Synonyms, Signs: CHENEY SYNDROME
ACROOSTEOLYSIS WITH OSTEOPOROSIS AND CHANGES IN SKULL AND MANDIBLE
ARTHRODENTOOSTEODYSPLASIA
SERPENTINE FIBULA-POLYCYSTIC KIDNEY SYNDROME
SFPKS
HJCYS
Number of Symptoms 64
OrphanetNr:
OMIM Id: 102500
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
 (HPO:0000028) Cryptorchidism 347 / 7739
2
 (HPO:0000107) Renal cyst 126 / 7739
3
 (HPO:0000047) Hypospadias 250 / 7739
4
 (HPO:0000574) Thick eyebrow 96 / 7739
5
 (HPO:0000286) Epicanthus 371 / 7739
6
 (HPO:0000689) Dental malocclusion 114 / 7739
7
 (HPO:0000527) Long eyelashes 46 / 7739
8
 (HPO:0000445) Wide nose 190 / 7739
9
 (HPO:0000463) Anteverted nares 305 / 7739
10
 (HPO:0000218) High palate 356 / 7739
11
 (HPO:0000664) Synophrys 112 / 7739
12
 (HPO:0006480) Premature loss of teeth 23 / 7739
13
 (HPO:0000470) Short neck 345 / 7739
14
 (HPO:0000506) Telecanthus 156 / 7739
15
 (HPO:0005463) Elongated sella turcica 1 / 7739
16
 (HPO:0002688) Absent frontal sinuses 12 / 7739
17
 (HPO:0000280) Coarse facial features 189 / 7739
18
 (HPO:0000293) Full cheeks 85 / 7739
19
 (HPO:0000494) Downslanted palpebral fissures 328 / 7739
20
 (HPO:0000347) Micrognathia 426 / 7739
21
 (HPO:0002645) Wormian bones 65 / 7739
22
 (HPO:0005758) Basilar impression 6 / 7739
23
 (HPO:0000343) Long philtrum 262 / 7739
24
 (HPO:0000405) Conductive hearing impairment 164 / 7739
25
 (HPO:0000369) Low-set ears 372 / 7739
26
 (HPO:0009748) Large earlobe 27 / 7739
27
 (HPO:0002751) Kyphoscoliosis 131 / 7739
28
 (HPO:0000939) Osteoporosis 129 / 7739
29
 (HPO:0000938) Osteopenia 138 / 7739
30
 (HPO:0004586) Biconcave vertebral bodies 15 / 7739
31
 (HPO:0001388) Joint laxity 117 / 7739
32
 (HPO:0002953) Vertebral compression fractures 14 / 7739
33
 (HPO:0003083) Dislocated radial head 35 / 7739
34
 (HPO:0001842) Foot acroosteolysis 4 / 7739
35
 (HPO:0008462) Cervical instability 4 / 7739
36
 (HPO:0002756) Pathologic fracture 30 / 7739
37
 (HPO:0002857) Genu valgum 144 / 7739
38
 (HPO:0006180) Crowded carpal bones 1 / 7739
39
 (HPO:0009771) Osteolytic defects of the phalanges of the hand 17 / 7739
40
 (HPO:0008421) Tall lumbar vertebral bodies 1 / 7739
41
 (HPO:0001537) Umbilical hernia 206 / 7739
42
 (HPO:0002566) Intestinal malrotation rare [HPO:skoehler] 89 / 7739
43
 (HPO:0000023) Inguinal hernia 181 / 7739
44
 (HPO:0001508) Failure to thrive 454 / 7739
45
 (HPO:0004322) Short stature 1232 / 7739
46
 (HPO:0001007) Hirsutism 91 / 7739
47
 (HPO:0001799) Short nail 12 / 7739
48
 (HPO:0001671) Abnormality of the cardiac septa 55 / 7739
49
 (HPO:0030680) Abnormality of cardiovascular system morphology 355 / 7739
50
 (HPO:0001643) Patent ductus arteriosus 228 / 7739
51
 (OMIM) Pseudoclubbing 1 / 7739
52
 (HPO:0000238) Hydrocephalus 278 / 7739
53
 (OMIM) Thickened skull vault 1 / 7739
54
 (OMIM) Long, bowed fibulae 1 / 7739
55
 (OMIM) Narrow disc space 2 / 7739
56
 (OMIM) Serpentine fibulae 1 / 7739
57
 (OMIM) Failure of suture ossification 1 / 7739
58
 (OMIM) Thick, straight hair 1 / 7739
59
 (OMIM) Curved nails 2 / 7739
60
 (OMIM) Normal intelligence 81 / 7739
61
 (OMIM) Bathrocephaly 1 / 7739
62
 (OMIM) Progressive basilar impression 1 / 7739
63
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
64
 (OMIM) Short distal digits 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Hajdu-Cheney syndrome is a rare autosomal dominant skeletal disorder characterized by short stature, coarse and dysmorphic facies, bowing of the long bones, and vertebral anomalies. Facial features include hypertelorism, bushy eyebrows, micrognathia, small mouth with dental anomalies, low-set ...
Clinical Description OMIM Hajdu and Kauntze (1948) reported a 37-year-old man with basilar impression, craniofacial and peripheral dysostosis, together with spinal osteoporosis and chondrodystrophy, which they noted for the rarity of the combined changes.

Cheney (1965) described this connective ...
Molecular genetics OMIM Simpson et al. (2011) performed whole-exome sequencing of 3 unrelated individuals of European origin with Hajdu-Cheney syndrome and identified 3 different truncating mutations in exon 34 of the NOTCH2 gene. One of the patients had affected relatives, and ...