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Congenital unilateral hypoplasia of depressor anguli oris

General Information (adopted from Orphanet):

Synonyms, Signs:	FACIAL PARESIS, PARTIAL, UNILATERAL DEPRESSOR ANGULI ORIS MUSCLE, HYPOPLASIA OF ASYMMETRIC CRYING FACIES ACF Isolated asymmetric crying facies
Number of Symptoms	34
OrphanetNr:	1166
OMIM Id:	125520
ICD-10:	Q87.0
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence:	No data available.
Inheritance:	Autosomal dominant [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
Rare head and neck malformation
-Rare developmental defect during embryogenesis

Symptom Information: Sort by abundance

	Symptom Information	Symptom	Abundance	DB Freq
1	(HPO:0000035)	Abnormality of the testis	Frequent [Orphanet]	296 / 7739
2	(HPO:0008678)	Renal hypoplasia/aplasia	Frequent [Orphanet]	127 / 7739
3	(HPO:0000072)	Hydroureter	Frequent [Orphanet]	146 / 7739
4	(HPO:0000113)	Polycystic kidney dysplasia	Frequent [Orphanet]	75 / 7739
5	(HPO:0000277)	Abnormality of the mandible	Frequent [Orphanet]	394 / 7739
6	(HPO:0000153)	Abnormality of the mouth	Very frequent [Orphanet]	60 / 7739
7	(HPO:0011331)	Hemifacial atrophy	Very frequent [Orphanet]	79 / 7739
8	(HPO:0000252)	Microcephaly	Frequent [Orphanet]	832 / 7739
9	(HPO:0000174)	Abnormality of the palate	Frequent [Orphanet]	298 / 7739
10	(HPO:0011333)	Asymmetric crying face		1 / 7739
11	(HPO:0009804)	Reduced number of teeth	Frequent [Orphanet]	137 / 7739
12	(HPO:0000411)	Protruding ear	Frequent [Orphanet]	140 / 7739
13	(HPO:0001276)	Hypertonia	Frequent [Orphanet]	317 / 7739
14	(HPO:0001387)	Joint stiffness	Frequent [Orphanet]	322 / 7739
15	(HPO:0003422)	Vertebral segmentation defect	Occasional [Orphanet]	95 / 7739
16	(HPO:0001385)	Hip dysplasia	Occasional [Orphanet]	242 / 7739
17	(HPO:0000775)	Abnormality of the diaphragm	Frequent [Orphanet]	62 / 7739
18	(HPO:0004322)	Short stature	Frequent [Orphanet]	1232 / 7739
19	(HPO:0001629)	Ventricular septal defect	Occasional [Orphanet]	316 / 7739
20	(HPO:0030680)	Abnormality of cardiovascular system morphology	Occasional [Orphanet]	355 / 7739
21	(HPO:0001643)	Patent ductus arteriosus		228 / 7739
22	(HPO:0001636)	Tetralogy of Fallot	Occasional [Orphanet]	104 / 7739
23	(HPO:0012303)	Abnormality of the aortic arch	Occasional [Orphanet]	57 / 7739
24	(HPO:0004414)	Abnormality of the pulmonary artery	Occasional [Orphanet]	50 / 7739
25	(HPO:0002093)	Respiratory insufficiency	Frequent [Orphanet]	410 / 7739
26	(HPO:0012252)	Abnormal respiratory system morphology	Occasional [Orphanet]	14 / 7739
27	(HPO:0003202)	Skeletal muscle atrophy	Very frequent [Orphanet]	281 / 7739
28	(OMIM)	Unilateral hypoplasia of the depressor anguli oris muscle		1 / 7739
29	(HPO:0002120)	Cerebral cortical atrophy	Frequent [Orphanet]	187 / 7739
30	(HPO:0003577)	Congenital onset		133 / 7739
31	(HPO:0012758)	Neurodevelopmental delay	Frequent [Orphanet]	949 / 7739
32	(HPO:0000006)	Autosomal dominant inheritance		2518 / 7739
33	(OMIM)	Asymmetric facies while crying		1 / 7739
34	(OMIM)	Unilateral weakness of the depressor anguli oris muscle		1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol	Variation	Clinical significance	Reference

Additional Information:

Clinical Description OMIM

Cayler (1967, 1969) reported 5 babies with unilateral partial facial palsy and ventricular septal defect. Nelson and Eng (1972) and Pape and Pickering (1972) noted that asymmetric crying facies was due to congenital hypoplasia of the depressor anguli ... Cayler (1967, 1969) reported 5 babies with unilateral partial facial palsy and ventricular septal defect. Nelson and Eng (1972) and Pape and Pickering (1972) noted that asymmetric crying facies was due to congenital hypoplasia of the depressor anguli oris muscle and reported other associated anomalies. Papadatos et al. (1974) described apparently autosomal dominant inheritance of congenital hypoplasia of the depressor anguli oris muscle. The effect results in asymmetry of the lower lip, especially evident in smiling or crying. In India, Singhi et al. (1980) found a frequency of 6.3 per 1,000 neonates. Two of the 10 affected neonates had congenital heart disease. Four of the 10 mothers of probands and 3 of 12 sibs had the same anomaly. Silengo et al. (1986) described association with microcephaly with or without mental retardation in several members of 3 generations of a family. Lin et al. (1997) evaluated associated anomalies in 50 infants or children with hypoplasia of the depressor anguli oris muscle and found accompanying anomalies in 35 (70%). These included anomalies of the head and neck (48%), heart (44%), skeleton (22%), genitourinary tract (24%), central nervous system (10%), gastrointestinal tract (6%), and miscellaneous minor anomalies (8%). In 22 of the 50 patients, at least 2 associated systemic anomalies were found. Failure to thrive and psychomotor retardation were found in 5 (10%) and 3 (6%) patients, respectively, on follow-up. Three infants died neonatally of severe heart disorders, and another died of central nervous system anomalies. Caksen et al. (2004) reviewed 35 cases of asymmetric crying facies (28 children and 7 adults) and found additional abnormalities in 16 (45%) of them, including cerebral and cerebellar atrophy, mental and motor retardation, cranial bone defects, facial dysmorphism, musculoskeletal abnormalities, and genitourinary anomalies. Shimasaki et al. (2004) reported a Japanese girl with features consistent with branchiootic syndrome (BOS1; 602588), including bilateral hearing impairment, preauricular pits, cupped ears, and bilateral cysts over the sternocleid muscle. A mutation was identified in the EYA1 gene (601653.0016), consistent with that diagnosis. The child also had features of the Cayler cardiofacial syndrome, including asymmetric face when crying and a large patent ductus arteriosus. The patient's mother had symmetric facial features, but moderate hearing loss, preauricular pits, and a right cervical sinus, all consistent with the BO syndrome. The patient's maternal grandfather and uncle were both hearing impaired; the uncle also had cysts over the sternocleidomastoid muscles. Shimasaki et al. (2004) suggested that the BO syndrome and Cayler syndrome may represent a spectrum of diseases.

Symptoms & Signs

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