Microcephaly - facio-cardio-skeletal syndrome, Hadziselimovic type

General Information (adopted from Orphanet):

Synonyms, Signs: MICROCEPHALY-FACIOCARDIOSKELETAL SYNDROME
Hadziselimovic syndrome
Number of Symptoms 43
OrphanetNr: 217026
OMIM Id: 612946
ICD-10: Q87.8
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Unknown
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Genetic malformation syndrome with short stature
 -Rare genetic disease
Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual deficit
 -Rare genetic disease
Malformation syndrome with short stature
 -Rare developmental defect during embryogenesis
Multiple congenital anomalies/dysmorphic syndrome without intellectual deficit
 -Rare developmental defect during embryogenesis
Rare syndrome with cardiac malformations
 -Rare developmental defect during embryogenesis
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0010958) Bilateral renal agenesis 16 / 7739
2
 (HPO:0000089) Renal hypoplasia 78 / 7739
3
 (HPO:0000104) Renal agenesis 68 / 7739
4
 (HPO:0000463) Anteverted nares 305 / 7739
5
 (HPO:0000218) High palate 356 / 7739
6
 (HPO:0000179) Thick lower lip vermilion 72 / 7739
7
 (HPO:0000286) Epicanthus 371 / 7739
8
 (HPO:0010806) U-Shaped upper lip vermilion 18 / 7739
9
 (HPO:0000426) Prominent nasal bridge 121 / 7739
10
 (HPO:0000294) Low anterior hairline 52 / 7739
11
 (HPO:0000252) Microcephaly 832 / 7739
12
 (HPO:0012471) Thick vermilion border 115 / 7739
13
 (HPO:0000601) Hypotelorism 83 / 7739
14
 (HPO:0000508) Ptosis 459 / 7739
15
 (HPO:0000486) Strabismus 576 / 7739
16
 (HPO:0000358) Posteriorly rotated ears 163 / 7739
17
 (HPO:0000369) Low-set ears 372 / 7739
18
 (HPO:0001263) Global developmental delay 853 / 7739
19
 (HPO:0001344) Absent speech 57 / 7739
20
 (HPO:0001249) Intellectual disability 1089 / 7739
21
 (HPO:0010034) Short 1st metacarpal 19 / 7739
22
 (HPO:0002750) Delayed skeletal maturation 250 / 7739
23
 (HPO:0002023) Anal atresia 135 / 7739
24
 (HPO:0001508) Failure to thrive 454 / 7739
25
 (HPO:0004325) Decreased body weight 492 / 7739
26
 (HPO:0004322) Short stature 1232 / 7739
27
 (HPO:0001636) Tetralogy of Fallot 104 / 7739
28
 (HPO:0001631) Atria septal defect 274 / 7739
29
 (HPO:0004935) Pulmonary artery atresia 12 / 7739
30
 (HPO:0030680) Abnormality of cardiovascular system morphology 355 / 7739
31
 (HPO:0001629) Ventricular septal defect 316 / 7739
32
 (HPO:0001714) Ventricular hypertrophy 20 / 7739
33
 (HPO:0001620) High pitched voice 32 / 7739
34
 (HPO:0008947) Infantile muscular hypotonia 482 / 7739
35
 (HPO:0010547) Muscle flaccidity 466 / 7739
36
 (HPO:0001324) Muscle weakness 859 / 7739
37
 (HPO:0001252) Muscular hypotonia 990 / 7739
38
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
39
 (OMIM) Short first digits 1 / 7739
40
 (HPO:0002079) Hypoplasia of the corpus callosum rare [HPO:skoehler] 161 / 7739
41
 (OMIM) Asymmetric shortening of long bones (radius, fibula, tibia) 1 / 7739
42
 (HPO:0001321) Cerebellar hypoplasia 114 / 7739
43
 (OMIM) Long digits 3 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Hadziselimovic et al. (2001) reported 2 brothers from a northern Italian family with microcephaly, severe developmental delay, and short stature. Dysmorphic facial features included prominent nasal bridge, hypotelorism, epicanthic folds, convergent strabismus, carp-shaped mouth, and low-set ears. There ...