Lethal faciocardiomelic dysplasia

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 33
OrphanetNr: 1972
OMIM Id: 227270
ICD-10: Q87.8
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 3 cases [Orphanet]
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Neonatal
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual deficit
 -Rare genetic disease
Multiple congenital anomalies/dysmorphic syndrome - variable intellectual deficit
 -Rare developmental defect during embryogenesis
Syndrome with limb reduction defects
 -Rare bone disease
 -Rare developmental defect during embryogenesis

Symptom Information: Sort by abundance 

1
 (HPO:0000160) Narrow mouth Very frequent [Orphanet] 188 / 7739
2
 (HPO:0000277) Abnormality of the mandible Very frequent [Orphanet] 394 / 7739
3
 (HPO:0000171) Microglossia Very frequent [Orphanet] 27 / 7739
4
 (HPO:0000278) Retrognathia 100 / 7739
5
 (HPO:0000347) Micrognathia 426 / 7739
6
 (HPO:0000954) Single transverse palmar crease Very frequent [Orphanet] 162 / 7739
7
 (HPO:0002818) Abnormality of the radius Very frequent [Orphanet] 96 / 7739
8
 (HPO:0002991) Abnormality of the fibula Very frequent [Orphanet] 49 / 7739
9
 (HPO:0009237) Short 5th finger 16 / 7739
10
 (HPO:0001167) Abnormality of finger Very frequent [Orphanet] 29 / 7739
11
 (HPO:0002992) Abnormality of the tibia Very frequent [Orphanet] 51 / 7739
12
 (HPO:0009486) Radial deviation of the hand Very frequent [Orphanet] 13 / 7739
13
 (HPO:0002997) Abnormality of the ulna Very frequent [Orphanet] 75 / 7739
14
 (HPO:0003038) Fibular hypoplasia 30 / 7739
15
 (HPO:0002984) Hypoplasia of the radius 44 / 7739
16
 (HPO:0001852) Sandal gap Very frequent [Orphanet] 63 / 7739
17
 (HPO:0009601) Aplasia/Hypoplasia of the thumb Very frequent [Orphanet] 80 / 7739
18
 (HPO:0001883) Talipes 12 / 7739
19
 (HPO:0009778) Short thumb 50 / 7739
20
 (HPO:0003022) Hypoplasia of the ulna 40 / 7739
21
 (HPO:0001518) Small for gestational age 107 / 7739
22
 (HPO:0001511) Intrauterine growth retardation Very frequent [Orphanet] 358 / 7739
23
 (HPO:0004383) Hypoplastic left heart Very frequent [Orphanet] 29 / 7739
24
 (HPO:0012303) Abnormality of the aortic arch Frequent [Orphanet] 57 / 7739
25
 (HPO:0001643) Patent ductus arteriosus Frequent [Orphanet] 228 / 7739
26
 (OMIM) Wide space between toes I and II 1 / 7739
27
 (OMIM) Tibial hypoplasia 3 / 7739
28
 (OMIM) Hypoplasia of fingers I and V 1 / 7739
29
 (HPO:0003811) Neonatal death 44 / 7739
30
 (OMIM) Congenital heart malformation 3 / 7739
31
 (HPO:0011420) Death Very frequent [Orphanet] 184 / 7739
32
 (HPO:0030680) Abnormality of cardiovascular system morphology 355 / 7739
33
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: