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14q11.2 microdeletion syndrome

General Information (adopted from Orphanet):

Synonyms, Signs:	Del(14)(q11.2) Monosomy 14q11.2
Number of Symptoms	60
OrphanetNr:	261120
OMIM Id:	613457
ICD-10:	Q93.5
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence:	No data available.
Inheritance:	Unknown Not applicable [Orphanet]
Age of onset:	Neonatal Infancy [Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases:

Partial deletion of the long arm of chromosome 14
-Rare developmental defect during embryogenesis
-Rare genetic disease

Symptom Information: Sort by abundance

	Symptom Information	Symptom	Abundance	DB Freq
1	(HPO:0000028)	Cryptorchidism		347 / 7739
2	(HPO:0000343)	Long philtrum	Very frequent [Orphanet]	262 / 7739
3	(HPO:0000581)	Blepharophimosis	Frequent [Orphanet]	197 / 7739
4	(HPO:0000445)	Wide nose		190 / 7739
5	(HPO:0002002)	Deep philtrum	Frequent [Orphanet]	42 / 7739
6	(HPO:0000160)	Narrow mouth	Frequent [Orphanet]	188 / 7739
7	(HPO:0000218)	High palate		356 / 7739
8	(HPO:0000325)	Triangular face		91 / 7739
9	(HPO:0000252)	Microcephaly		832 / 7739
10	(HPO:0000490)	Deeply set eye	Frequent [Orphanet]	131 / 7739
11	(HPO:0000347)	Micrognathia		426 / 7739
12	(HPO:0005338)	Sparse lateral eyebrow	Frequent [Orphanet]	21 / 7739
13	(HPO:0002553)	Highly arched eyebrow	Frequent [Orphanet]	92 / 7739
14	(HPO:0000232)	Everted lower lip vermilion	Very frequent [Orphanet]	90 / 7739
15	(HPO:0002705)	High, narrow palate	Frequent [Orphanet]	308 / 7739
16	(HPO:0001357)	Plagiocephaly		106 / 7739
17	(HPO:0000337)	Broad forehead	Frequent [Orphanet]	116 / 7739
18	(HPO:0000286)	Epicanthus	Frequent [Orphanet]	371 / 7739
19	(HPO:0000316)	Hypertelorism	Very frequent [Orphanet]	644 / 7739
20	(HPO:0000277)	Abnormality of the mandible	Frequent [Orphanet]	394 / 7739
21	(HPO:0005280)	Depressed nasal bridge	Very frequent [Orphanet]	381 / 7739
22	(HPO:0002263)	Exaggerated cupid's bow	Very frequent [Orphanet]	15 / 7739
23	(HPO:0003196)	Short nose	Very frequent [Orphanet]	264 / 7739
24	(HPO:0000648)	Optic atrophy		238 / 7739
25	(HPO:0100704)	Cortical visual impairment		28 / 7739
26	(HPO:0000377)	Abnormality of the pinna		111 / 7739
27	(HPO:0000369)	Low-set ears		372 / 7739
28	(HPO:0000356)	Abnormality of the outer ear	Very frequent [Orphanet]	85 / 7739
29	(HPO:0002540)	Inability to walk		19 / 7739
30	(HPO:0001250)	Seizures		1245 / 7739
31	(HPO:0001257)	Spasticity		251 / 7739
32	(HPO:0001276)	Hypertonia		317 / 7739
33	(HPO:0001263)	Global developmental delay		853 / 7739
34	(HPO:0000817)	Poor eye contact		26 / 7739
35	(HPO:0001347)	Hyperreflexia		363 / 7739
36	(HPO:0010864)	Intellectual disability, severe		120 / 7739
37	(HPO:0001770)	Toe syndactyly	Frequent [Orphanet]	149 / 7739
38	(HPO:0001863)	Toe clinodactyly	Frequent [Orphanet]	12 / 7739
39	(HPO:0001510)	Growth delay		295 / 7739
40	(HPO:0001508)	Failure to thrive		454 / 7739
41	(HPO:0000995)	Melanocytic nevus	Frequent [Orphanet]	63 / 7739
42	(HPO:0001629)	Ventricular septal defect	Frequent [Orphanet] rare [HPO:skoehler]	316 / 7739
43	(HPO:0001631)	Atria septal defect		274 / 7739
44	(HPO:0011648)	Patent ductus arteriosus after birth at term		18 / 7739
45	(HPO:0001643)	Patent ductus arteriosus	Frequent [Orphanet] rare [HPO:skoehler]	228 / 7739
46	(HPO:0001655)	Patent foramen ovale	rare [HPO:skoehler]	31 / 7739
47	(HPO:0001671)	Abnormality of the cardiac septa		55 / 7739
48	(HPO:0003220)	Abnormality of chromosome stability	Very frequent [Orphanet]	98 / 7739
49	(HPO:0001319)	Neonatal hypotonia		101 / 7739
50	(HPO:0002421)	Poor head control		23 / 7739
51	(HPO:0002079)	Hypoplasia of the corpus callosum		161 / 7739
52	(HPO:0012758)	Neurodevelopmental delay	Very frequent [Orphanet]	949 / 7739
53	(HPO:0012447)	Abnormal myelination		7 / 7739
54	(OMIM)	Contiguous gene deletion syndrome		23 / 7739
55	(OMIM)	Lack of fixation		1 / 7739
56	(OMIM)	Minimal or lack of speech		1 / 7739
57	(HPO:0011400)	Abnormal CNS myelination		10 / 7739
58	(OMIM)	Triangular medial eyebrows with distal tapering		1 / 7739
59	(OMIM)	Cupid bow		2 / 7739
60	(HPO:0012745)	Short palpebral fissure		47 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol	Variation	Clinical significance	Reference

Additional Information:

Clinical Description OMIM

Grammatico et al. (1994) reported a boy with severe psychomotor retardation and dysmorphic features associated with a small de novo interstitial deletion of chromosome 14q11.2-q13 identified by karyotype analysis. In the first months of life, he was noted ... Grammatico et al. (1994) reported a boy with severe psychomotor retardation and dysmorphic features associated with a small de novo interstitial deletion of chromosome 14q11.2-q13 identified by karyotype analysis. In the first months of life, he was noted to have microcephaly with plagiocephaly, spastic tetraparesis, left hip subluxation, and poor growth. Dysmorphic features included upslanting palpebral fissures, flat nasal bridge with enlarged nares, and poorly folded auricular lobes. He also had cryptorchidism and low implanted thumbs. Neurologic examination at age 3 years showed autistic-like behavior, inability to follow with the eyes, vertical nystagmus, and inability to sit or walk unsupported. Shapira et al. (1994) reported 2 unrelated girls, of Hispanic and Vietnamese descent, respectively, with psychomotor delay and failure to thrive associated with de novo deletions of proximal 14q. Common features included microcephaly, poor growth, and hypoplasia of the corpus callosum. Both had dysmorphic features, which varied somewhat. The first girl had triangular face, high-arched palate, and prominent chin. Other features included generalized hypertonia, brisk tendon reflexes, poor head control, and inability to fix and follow visually. The second girl had plagiocephaly, open anterior fontanel, prominent forehead, asymmetric low-set, posteriorly-rotated ears, epicanthal folds, flat nasal bridge, small mouth, and micrognathia. She also had a patent foramen ovale, patent ductus arteriosus, and severe hypotonia. Cytogenetic analysis showed deletions of chromosome 14q11.2-q21.1 and 14q12-q22, respectively, which was confirmed by molecular analysis. Both were de novo and occurred on the paternal chromosome. Govaerts et al. (1996) reported another patient with a de novo interstitial deletion at chromosome 14q11.2-q13. He had microcephaly, slightly protruding eyes with epicanthus, high narrow palate, short neck, and arthrogryposis. He had severe developmental delay and did not achieve eye contact. He also had unilateral renal cysts and diabetes insipidus. Death occurred at age 7 months from pneumonia. The deletion was found on the paternally derived chromosome. Ramelli et al. (2000) reported a boy with severely delayed psychomotor development, microcephaly, spastic tetraparesis, esotropia, inability to follow with the eyes, broad nose, and coarse facial features. Brain MRI showed agenesis of the corpus callosum and abnormal myelination pattern. Cytogenetic analysis identified an interstitial deletion of chromosome 14q11.2-q13.1. The findings were similar to those in the patient reported by Grammatico et al. (1994). Kamnasaran et al. (2001) reviewed the clinical features of 9 unrelated children with deletions or translocations involving the chromosome 14q11-q22 region, 5 of whom had been previously reported. Common features of 6 patients with deletions included microcephaly, hypotonia, poor growth, mental retardation with poor eye contact, and hypoplasia of the corpus callosum. Dysmorphic features, when reported, were mild and variable, including short nose, long philtrum, and flat nasal bridge. Zahir et al. (2007) reported 3 unrelated children with a de novo interstitial deletion of chromosome 14q11.2. One was of English Canadian descent, 1 of Japanese descent, and 1 of English descent. All had hypotonia in infancy followed by developmental delay and cognitive impairment. Similar mild dysmorphic features included widely-spaced eyes, broad flat nasal bridge and short nose, a long philtrum, small mouth, prominent Cupid's bow of the upper lip, full lower lip, eyebrows with a triangular medial aspect and distal tapering, and an usual abnormality of helical root formation of the ear. One child had a ventricular septal defect and patent ductus arteriosus. Torgyekes et al. (2011) reported 2 unrelated patients with deletion of proximal 14q13.1. Both children had severe developmental delay, failure to thrive, microcephaly, and distinctive facial features, including hypertelorism, epicanthal folds, sloping forehead, low-set ears, rounded eyebrows with triangular media aspect and outer tapering, depressed and broad nasal bridge, small mouth, long philtrum, and prominent Cupid's bow. Brain MRI of both children showed partial agenesis of the corpus callosum. One patient also had bilateral hypoplastic optic nerves causing blindness, mild hearing impairment, sinus arrhythmia, abnormal temperature regulation, frequent apneic episodes, myoclonic jerks, and opisthotonus. The second had a seizure disorder confirmed by EEG, sleep apnea, chronic interstitial lung disease, and several episodes of pneumonia and gastroenteritis.

Symptoms & Signs

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