BRACHIAL AMELIA, CLEFT LIP, AND HOLOPROSENCEPHALY

General Information (adopted from Orphanet):

Synonyms, Signs: BRACHIAL AMELIA, FOREBRAIN DEFECTS, AND FACIAL CLEFTS
ACLH
Number of Symptoms 22
OrphanetNr:
OMIM Id: 601357
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance:
Age of onset: Congenital onset
[Omim]

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0002006) Facial cleft 25 / 7739
2
(HPO:0011815) Cephalocele 5 / 7739
3
(HPO:0007035) Anterior encephalocele 2 / 7739
4
(HPO:0002084) Encephalocele 70 / 7739
5
(HPO:0000175) Cleft palate 349 / 7739
6
(HPO:0002744) Bilateral cleft lip and palate 7 / 7739
7
(HPO:0000589) Coloboma Rare [HPO:probinson] 47 / 7739
8
(HPO:0000369) Low-set ears 372 / 7739
9
(HPO:0001849) Foot oligodactyly Rare [HPO] 9 / 7739
10
(HPO:0002650) Scoliosis 705 / 7739
11
(HPO:0003097) Short femur 13 / 7739
12
(HPO:0009827) Amelia 12 / 7739
13
(HPO:0001539) Omphalocele 102 / 7739
14
(HPO:0001629) Ventricular septal defect 316 / 7739
15
(OMIM) Smooth brain surface 1 / 7739
16
(HPO:0003577) Congenital onset 133 / 7739
17
(OMIM) Forebrain defects 1 / 7739
18
(OMIM) Absence of the corpus callosum 5 / 7739
19
(HPO:0001360) Holoprosencephaly 29 / 7739
20
(OMIM) Brachial amelia 1 / 7739
21
(OMIM) Absence of the basal ganglia 1 / 7739
22
(HPO:0001331) Absent septum pellucidum 16 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Brachial amelia, cleft lip, and holoprosencephaly (ACLH) is a severe multiple congenital anomaly disorder characterized by brachial amelia, cleft lip, and forebrain defects consistent with holoprosencephaly. Although the disorder is rarely reported, the features are consistent enough to ...
Clinical Description OMIM An association of holoprosencephaly, facial clefting, and bilateral amelia of the upper limbs was reported by Yim and Ebbin (1982) and Thomas and Donnai (1994) in 2 fetuses. Froster et al. (1996) described a female fetus with large ...