Short stature - craniofacial anomalies - genital hypoplasia

General Information (adopted from Orphanet):

Synonyms, Signs: HASPESLAGH SYNDROME
Haspeslagh-Fryns-Muelenaere syndrome
Number of Symptoms 49
OrphanetNr: 2994
OMIM Id: 177980
ICD-10: Q87.8
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: 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:0000047) Hypospadias 250 / 7739
2
 (HPO:0003241) External genital hypoplasia 25 / 7739
3
 (HPO:0010650) Hypoplasia of the premaxilla Very frequent [Orphanet] 39 / 7739
4
 (HPO:0000277) Abnormality of the mandible Very frequent [Orphanet] 394 / 7739
5
 (HPO:0011220) Prominent forehead 137 / 7739
6
 (HPO:0000164) Abnormality of the teeth Frequent [Orphanet] 291 / 7739
7
 (HPO:0000252) Microcephaly Frequent [Orphanet] 832 / 7739
8
 (HPO:0000174) Abnormality of the palate Frequent [Orphanet] 298 / 7739
9
 (HPO:0000272) Malar flattening 277 / 7739
10
 (HPO:0012368) Flat face 106 / 7739
11
 (HPO:0000243) Trigonocephaly Very frequent [Orphanet] 40 / 7739
12
 (HPO:0000308) Microretrognathia 78 / 7739
13
 (HPO:0000160) Narrow mouth 188 / 7739
14
 (HPO:0000470) Short neck Frequent [Orphanet] 345 / 7739
15
 (HPO:0000286) Epicanthus Very frequent [Orphanet] 371 / 7739
16
 (HPO:0000494) Downslanted palpebral fissures Occasional [Orphanet] 328 / 7739
17
 (HPO:0000316) Hypertelorism Frequent [Orphanet] 644 / 7739
18
 (HPO:0002007) Frontal bossing Very frequent [Orphanet] 366 / 7739
19
 (HPO:0008046) Abnormality of the retinal vasculature Very frequent [Orphanet] 41 / 7739
20
 (HPO:0000540) Hypermetropia Very frequent [Orphanet] 99 / 7739
21
 (HPO:0008772) Aplasia/Hypoplasia of the external ear Very frequent [Orphanet] 67 / 7739
22
 (HPO:0000357) Abnormal location of ears Very frequent [Orphanet] 328 / 7739
23
 (HPO:0000377) Abnormality of the pinna 111 / 7739
24
 (HPO:0001250) Seizures 1245 / 7739
25
 (HPO:0001249) Intellectual disability 1089 / 7739
26
 (HPO:0002557) Hypoplastic nipples 33 / 7739
27
 (HPO:0000821) Hypothyroidism Frequent [Orphanet] 141 / 7739
28
 (HPO:0008373) Puberty and gonadal disorders Very frequent [Orphanet] 156 / 7739
29
 (HPO:0100490) Camptodactyly of finger Occasional [Orphanet] 212 / 7739
30
 (HPO:0001762) Talipes equinovarus 309 / 7739
31
 (HPO:0009882) Short distal phalanx of finger Occasional [Orphanet] 125 / 7739
32
 (HPO:0011302) Long palm Frequent [Orphanet] 70 / 7739
33
 (HPO:0000767) Pectus excavatum 244 / 7739
34
 (HPO:0001547) Abnormality of the rib cage 25 / 7739
35
 (HPO:0001040) Multiple pterygia 5 / 7739
36
 (HPO:0001059) Pterygium 16 / 7739
37
 (HPO:0001387) Joint stiffness Frequent [Orphanet] 322 / 7739
38
 (HPO:0006101) Finger syndactyly Frequent [Orphanet] 198 / 7739
39
 (HPO:0009775) Amniotic constriction ring Very frequent [Orphanet] 21 / 7739
40
 (HPO:0001545) Anteriorly placed anus Occasional [Orphanet] 55 / 7739
41
 (HPO:0004322) Short stature Very frequent [Orphanet] 1232 / 7739
42
 (HPO:0030680) Abnormality of cardiovascular system morphology Frequent [Orphanet] 355 / 7739
43
 (HPO:0003202) Skeletal muscle atrophy Very frequent [Orphanet] 281 / 7739
44
 (HPO:0002536) Abnormal cortical gyration 72 / 7739
45
 (HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739
46
 (OMIM) High resolution G- and T- banding karyotype shows reciprocal translocation of distal 9p-6q 1 / 7739
47
 (HPO:0002079) Hypoplasia of the corpus callosum 161 / 7739
48
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
49
 (HPO:0001199) Triphalangeal thumb Occasional [Orphanet] 56 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: