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2p15p16.1 microdeletion syndrome

General Information (adopted from Orphanet):

Synonyms, Signs:	Monosomy 2p15-p16.1 Monosomy 2p15p16.1 Del(2)(p15p16.1) 2p15-p16.1 microdeletion syndrome
Number of Symptoms	111
OrphanetNr:	261349
OMIM Id:	612513
ICD-10:	Q93.5
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence:	No data available.
Inheritance:	Sporadic [Omim]
Age of onset:	Neonatal Infancy [Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases:

Partial deletion of the short arm of chromosome 2
-Rare developmental defect during embryogenesis
-Rare genetic disease

Symptom Information: Sort by abundance

	Symptom Information	Symptom	Abundance	DB Freq
1	(HPO:0000135)	Hypogonadism		89 / 7739
2	(HPO:0000054)	Micropenis		257 / 7739
3	(HPO:0008734)	Decreased testicular size	Occasional [Orphanet]	105 / 7739
4	(HPO:0000072)	Hydroureter	Frequent [Orphanet]	146 / 7739
5	(HPO:0000126)	Hydronephrosis		119 / 7739
6	(HPO:0000107)	Renal cyst	Occasional [Orphanet]	126 / 7739
7	(HPO:0000341)	Narrow forehead	Frequent [Orphanet]	96 / 7739
8	(HPO:0000499)	Abnormality of the eyelashes	Frequent [Orphanet]	35 / 7739
9	(HPO:0100840)	Aplasia/Hypoplasia of the eyebrow	Occasional [Orphanet]	117 / 7739
10	(HPO:0000232)	Everted lower lip vermilion	Very frequent [Orphanet]	90 / 7739
11	(HPO:0000506)	Telecanthus	Very frequent [Orphanet]	156 / 7739
12	(HPO:0000248)	Brachycephaly	Frequent [Orphanet]	222 / 7739
13	(HPO:0005274)	Prominent nasal tip		6 / 7739
14	(HPO:0005487)	Prominent metopic ridge	Occasional [Orphanet]	28 / 7739
15	(HPO:0005105)	Abnormal nasal morphology	Frequent [Orphanet]	114 / 7739
16	(HPO:0000160)	Narrow mouth	Occasional [Orphanet]	188 / 7739
17	(HPO:0000431)	Wide nasal bridge	Very frequent [Orphanet]	290 / 7739
18	(HPO:0002705)	High, narrow palate	Very frequent [Orphanet]	308 / 7739
19	(HPO:0000340)	Sloping forehead	Frequent [Orphanet]	86 / 7739
20	(HPO:0000343)	Long philtrum	Very frequent [Orphanet]	262 / 7739
21	(HPO:0000348)	High forehead	Occasional [Orphanet]	157 / 7739
22	(HPO:0000581)	Blepharophimosis	Very frequent [Orphanet]	197 / 7739
23	(HPO:0000288)	Abnormality of the philtrum	Very frequent [Orphanet]	54 / 7739
24	(HPO:0000218)	High palate		356 / 7739
25	(HPO:0000278)	Retrognathia		100 / 7739
26	(HPO:0002788)	Recurrent upper respiratory tract infections		31 / 7739
27	(HPO:0000426)	Prominent nasal bridge	Very frequent [Orphanet]	121 / 7739
28	(HPO:0000494)	Downslanted palpebral fissures	Very frequent [Orphanet]	328 / 7739
29	(HPO:0000286)	Epicanthus	Very frequent [Orphanet]	371 / 7739
30	(HPO:0010628)	Facial palsy	Occasional [Orphanet]	146 / 7739
31	(HPO:0000252)	Microcephaly	Very frequent [Orphanet]	832 / 7739
32	(HPO:0000277)	Abnormality of the mandible	Frequent [Orphanet]	394 / 7739
33	(HPO:0000486)	Strabismus	Frequent [Orphanet]	576 / 7739
34	(HPO:0000508)	Ptosis	Very frequent [Orphanet]	459 / 7739
35	(HPO:0000609)	Optic nerve hypoplasia		26 / 7739
36	(HPO:0000572)	Visual loss	Frequent [Orphanet]	272 / 7739
37	(HPO:0000400)	Macrotia		108 / 7739
38	(HPO:0000365)	Hearing impairment	Occasional [Orphanet]	539 / 7739
39	(HPO:0000411)	Protruding ear	Frequent [Orphanet]	140 / 7739
40	(HPO:0000357)	Abnormal location of ears	Frequent [Orphanet]	328 / 7739
41	(HPO:0008527)	Congenital sensorineural hearing impairment		165 / 7739
42	(HPO:0000407)	Sensorineural hearing impairment		524 / 7739
43	(HPO:0008625)	Severe sensorineural hearing impairment		150 / 7739
44	(HPO:0001288)	Gait disturbance	Occasional [Orphanet]	318 / 7739
45	(HPO:0002015)	Dysphagia	Occasional [Orphanet]	301 / 7739
46	(HPO:0000717)	Autism	Frequent [Orphanet]	108 / 7739
47	(HPO:0001249)	Intellectual disability		1089 / 7739
48	(HPO:0001257)	Spasticity		251 / 7739
49	(HPO:0001263)	Global developmental delay		853 / 7739
50	(HPO:0002353)	EEG abnormality	Occasional [Orphanet]	188 / 7739
51	(HPO:0001276)	Hypertonia	Frequent [Orphanet]	317 / 7739
52	(HPO:0000752)	Hyperactivity	Frequent [Orphanet]	140 / 7739
53	(HPO:0007018)	Attention deficit hyperactivity disorder		56 / 7739
54	(HPO:0002167)	Neurological speech impairment	Occasional [Orphanet]	308 / 7739
55	(HPO:0002558)	Supernumerary nipple	Occasional [Orphanet]	40 / 7739
56	(HPO:0006610)	Wide intermamillary distance		46 / 7739
57	(HPO:0000771)	Gynecomastia	Occasional [Orphanet]	53 / 7739
58	(HPO:0004404)	Abnormality of the nipple	Frequent [Orphanet]	54 / 7739
59	(HPO:0008373)	Puberty and gonadal disorders	Occasional [Orphanet]	156 / 7739
60	(HPO:0002808)	Kyphosis	Occasional [Orphanet]	289 / 7739
61	(HPO:0001182)	Tapered finger	Frequent [Orphanet]	93 / 7739
62	(HPO:0100625)	Enlarged thorax	Occasional [Orphanet]	15 / 7739
63	(HPO:0000767)	Pectus excavatum	Occasional [Orphanet]	244 / 7739
64	(HPO:0001848)	Calcaneovalgus deformity		12 / 7739
65	(HPO:0009473)	Joint contracture of the hand		84 / 7739
66	(HPO:0012385)	Camptodactyly		113 / 7739
67	(HPO:0001852)	Sandal gap	Occasional [Orphanet]	63 / 7739
68	(HPO:0002751)	Kyphoscoliosis		131 / 7739
69	(HPO:0002999)	Patellar dislocation	Occasional [Orphanet]	46 / 7739
70	(HPO:0001863)	Toe clinodactyly	Occasional [Orphanet]	12 / 7739
71	(HPO:0001763)	Pes planus	Occasional [Orphanet]	176 / 7739
72	(HPO:0000954)	Single transverse palmar crease	Occasional [Orphanet]	162 / 7739
73	(HPO:0001840)	Metatarsus adductus	Frequent [Orphanet]	49 / 7739
74	(HPO:0100490)	Camptodactyly of finger	Frequent [Orphanet]	212 / 7739
75	(HPO:0001166)	Arachnodactyly		62 / 7739
76	(HPO:0002650)	Scoliosis	Occasional [Orphanet]	705 / 7739
77	(HPO:0001561)	Polyhydramnios	Occasional [Orphanet]	191 / 7739
78	(HPO:0008872)	Feeding difficulties in infancy		153 / 7739
79	(HPO:0011968)	Feeding difficulties		240 / 7739
80	(HPO:0004299)	Hernia of the abdominal wall	Occasional [Orphanet]	176 / 7739
81	(HPO:0001511)	Intrauterine growth retardation	Frequent [Orphanet]	358 / 7739
82	(HPO:0000098)	Tall stature	Occasional [Orphanet]	74 / 7739
83	(HPO:0004322)	Short stature	Frequent [Orphanet]	1232 / 7739
84	(HPO:0004325)	Decreased body weight	Frequent [Orphanet]	492 / 7739
85	(HPO:0002213)	Fine hair	Occasional [Orphanet]	77 / 7739
86	(HPO:0001633)	Abnormality of the mitral valve	Occasional [Orphanet]	69 / 7739
87	(HPO:0001646)	Abnormality of the aortic valve	Occasional [Orphanet]	55 / 7739
88	(HPO:0003220)	Abnormality of chromosome stability	Very frequent [Orphanet]	98 / 7739
89	(HPO:0002205)	Recurrent respiratory infections	Frequent [Orphanet]	254 / 7739
90	(HPO:0001601)	Laryngomalacia	Occasional [Orphanet]	61 / 7739
91	(HPO:0001608)	Abnormality of the voice	Occasional [Orphanet]	126 / 7739
92	(HPO:0001611)	Nasal speech		48 / 7739
93	(HPO:0001252)	Muscular hypotonia	Frequent [Orphanet]	990 / 7739
94	(OMIM)	Smooth upper vermilion border		1 / 7739
95	(OMIM)	[DEL]Autistic features		43 / 7739
96	(HPO:0001302)	Pachygyria		60 / 7739
97	(HPO:0012745)	Short palpebral fissure		47 / 7739
98	(HPO:0002334)	Abnormality of the cerebellar vermis	Occasional [Orphanet]	137 / 7739
99	(HPO:0003745)	Sporadic		131 / 7739
100	(OMIM)	High nasal root		1 / 7739
101	(HPO:0012758)	Neurodevelopmental delay	Very frequent [Orphanet]	949 / 7739
102	(OMIM)	Receding, short forehead		1 / 7739
103	(OMIM)	Widened inner canthal distance		1 / 7739
104	(OMIM)	Spasticity of the lower limbs		5 / 7739
105	(HPO:0002539)	Cortical dysplasia		19 / 7739
106	(HPO:0012795)	Abnormality of the optic disc	Very frequent [Orphanet]	187 / 7739
107	(OMIM)	Long smooth philtrum		9 / 7739
108	(HPO:0002536)	Abnormal cortical gyration	Frequent [Orphanet]	72 / 7739
109	(OMIM)	Valvular defects		3 / 7739
110	(OMIM)	Long, straight eyelashes		1 / 7739
111	(HPO:0002119)	Ventriculomegaly	Occasional [Orphanet]	253 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol	Variation	Clinical significance	Reference

Additional Information:

Clinical Description OMIM

Rajcan-Separovic et al. (2007) reported 2 unrelated children, a boy and a girl, with a de novo interstitial microdeletion at chromosome 2p16.1-p15 associated with a similar phenotype characterized by mental retardation, autistic features, and dysmorphic features. Dysmorphic craniofacial ... Rajcan-Separovic et al. (2007) reported 2 unrelated children, a boy and a girl, with a de novo interstitial microdeletion at chromosome 2p16.1-p15 associated with a similar phenotype characterized by mental retardation, autistic features, and dysmorphic features. Dysmorphic craniofacial features included progressive microcephaly, flat occiput, bitemporal narrowing, widened inner canthal distance, small palpebral fissures, ptosis, downslanting palpebral fissures, long and straight eyelashes, broad and high nasal root, wide and prominent nasal tip, elongated smooth philtrum, high palate, large ears, and everted lower lips. Additional features included optic nerve hypoplasia, hydronephrosis, digital camptodactyly, widely spaced nipples, and lower limb spasticity. Brain MRI showed cortical dysplasia/pachygyria. De Leeuw et al. (2008) reported an additional male patient with 2p16.1-p15 deletion syndrome. He had delayed psychomotor development, mental retardation, optic nerve hypoplasia, a narrow receding forehead, widened inner canthal distance, short and downslanting palpebral fissures, high nasal bridge, low-set large ears, and small mouth with high palate. The thorax was broad with increased internipple distance. Renal ultrasound showed multiple cysts. Chabchoub et al. (2008) reported a 16-year-old Belgian boy with 2p16.1-p15 deletion syndrome. He had mild mental retardation without autistic features. Dysmorphic features included high forehead, downslanting palpebral fissures, large ears, broad nasal root with prominent tip, and a smooth upper vermilion border of the mouth with everted upper lip. Other features included pectus excavatum, small testes, arachnodactyly, and mild kyphoscoliosis. He also had multiple cardiac valvular defects. Liang et al. (2009) reported a 4.5-year-old Japanese girl with 2p16.1-p15 microdeletion syndrome. She showed intrauterine and postnatal growth retardation and severely delayed psychomotor development with an IQ of about 20. Short stature and microcephaly were noted. Dysmorphic facial features included hypertelorism, epicanthal folds, broad nasal bridge, retrognathia, and low-set ears. She had generalized hypotonia, spasticity, attention deficit, metatarsus adductovarus, and bilateral optic atrophy. Brain imaging showed no abnormalities. Comparative genomic hybridization array analysis showed a de novo heterozygous 3.2-Mb deletion at chromosome 2p16.1-p15 on the paternally-derived chromosome. Felix et al. (2010) reported a 4-year-old girl with a de novo heterozygous 3.35-Mb deletion at 2p16.1-p15 on the paternal chromosome. She had pre- and postnatal growth deficiency, microcephaly, and developmental delay. Dysmorphic features included micrognathia, high and broad nasal root, smooth philtrum, long eyelashes, high palate, and camptodactyly. She also had gastroesophageal reflux and 2 febrile seizures. Brain imaging was normal.

Symptoms & Signs

	Field	Query
	Disease
	Symptom