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2q32q33 microdeletion syndrome

General Information (adopted from Orphanet):

Synonyms, Signs:	Monosomy 2q32 Del(2)(q32q33) Monosomy 2q32q33 Monosomy 2q32-q33 Del(2)(q32) 2q32-q33 microdeletion syndrome
Number of Symptoms	71
OrphanetNr:	251019
OMIM Id:	612313
ICD-10:	Q93.5
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence:	< 25 cases [Orphanet]
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 2
-Rare developmental defect during embryogenesis
-Rare genetic disease

Symptom Information: Sort by abundance

	Symptom Information	Symptom	Abundance	DB Freq
1	(HPO:0008734)	Decreased testicular size	Occasional [Orphanet]	105 / 7739
2	(HPO:0000319)	Smooth philtrum		72 / 7739
3	(HPO:0000175)	Cleft palate		349 / 7739
4	(HPO:0000678)	Dental crowding		65 / 7739
5	(HPO:0000276)	Long face	Occasional [Orphanet]	109 / 7739
6	(HPO:0000494)	Downslanted palpebral fissures	Occasional [Orphanet]	328 / 7739
7	(HPO:0000174)	Abnormality of the palate	Frequent [Orphanet]	298 / 7739
8	(HPO:0000343)	Long philtrum	Occasional [Orphanet]	262 / 7739
9	(HPO:0000277)	Abnormality of the mandible	Frequent [Orphanet]	394 / 7739
10	(HPO:0000677)	Oligodontia		41 / 7739
11	(HPO:0000414)	Bulbous nose		63 / 7739
12	(HPO:0000248)	Brachycephaly	Occasional [Orphanet]	222 / 7739
13	(HPO:0002705)	High, narrow palate	Frequent [Orphanet]	308 / 7739
14	(HPO:0000348)	High forehead	Frequent [Orphanet]	157 / 7739
15	(HPO:0000272)	Malar flattening		277 / 7739
16	(HPO:0002007)	Frontal bossing		366 / 7739
17	(HPO:0000160)	Narrow mouth	Occasional [Orphanet]	188 / 7739
18	(HPO:0000426)	Prominent nasal bridge	Frequent [Orphanet]	121 / 7739
19	(HPO:0009804)	Reduced number of teeth	Occasional [Orphanet]	137 / 7739
20	(HPO:0000233)	Thin vermilion border	Frequent [Orphanet]	124 / 7739
21	(HPO:0000463)	Anteverted nares	Occasional [Orphanet]	305 / 7739
22	(HPO:0000444)	Convex nasal ridge	Occasional [Orphanet]	87 / 7739
23	(HPO:0006482)	Abnormality of dental morphology	Frequent [Orphanet]	81 / 7739
24	(HPO:0003189)	Long nose		20 / 7739
25	(HPO:0000252)	Microcephaly	Occasional [Orphanet]	832 / 7739
26	(HPO:0011331)	Hemifacial atrophy	Occasional [Orphanet]	79 / 7739
27	(HPO:0000698)	Conical tooth		14 / 7739
28	(HPO:0011800)	Midface retrusion		221 / 7739
29	(HPO:0000347)	Micrognathia		426 / 7739
30	(HPO:0000218)	High palate		356 / 7739
31	(HPO:0000486)	Strabismus	Occasional [Orphanet]	576 / 7739
32	(HPO:0000357)	Abnormal location of ears	Frequent [Orphanet]	328 / 7739
33	(HPO:0000369)	Low-set ears		372 / 7739
34	(HPO:0001250)	Seizures		1245 / 7739
35	(HPO:0002360)	Sleep disturbance	Occasional [Orphanet]	113 / 7739
36	(HPO:0000718)	Aggressive behavior		109 / 7739
37	(HPO:0100851)	Abnormal emotion/affect behavior	Occasional [Orphanet]	85 / 7739
38	(HPO:0000750)	Delayed speech and language development		197 / 7739
39	(HPO:0001249)	Intellectual disability		1089 / 7739
40	(HPO:0000752)	Hyperactivity	Occasional [Orphanet]	140 / 7739
41	(HPO:0002167)	Neurological speech impairment	Very frequent [Orphanet]	308 / 7739
42	(HPO:0000717)	Autism	Occasional [Orphanet]	108 / 7739
43	(HPO:0002136)	Broad-based gait		30 / 7739
44	(HPO:0001263)	Global developmental delay		853 / 7739
45	(HPO:0001762)	Talipes equinovarus	Occasional [Orphanet]	309 / 7739
46	(HPO:0011302)	Long palm	Occasional [Orphanet]	70 / 7739
47	(HPO:0012385)	Camptodactyly		113 / 7739
48	(HPO:0001863)	Toe clinodactyly	Occasional [Orphanet]	12 / 7739
49	(HPO:0010055)	Broad hallux	Occasional [Orphanet]	56 / 7739
50	(HPO:0001382)	Joint hypermobility	Occasional [Orphanet]	231 / 7739
51	(HPO:0004209)	Clinodactyly of the 5th finger	Occasional [Orphanet]	288 / 7739
52	(HPO:0001166)	Arachnodactyly		62 / 7739
53	(HPO:0001172)	Abnormality of the thumb	Occasional [Orphanet]	103 / 7739
54	(HPO:0000023)	Inguinal hernia		181 / 7739
55	(HPO:0004322)	Short stature	Very frequent [Orphanet]	1232 / 7739
56	(HPO:0004325)	Decreased body weight	Frequent [Orphanet]	492 / 7739
57	(HPO:0000963)	Thin skin		96 / 7739
58	(HPO:0008070)	Sparse hair		94 / 7739
59	(HPO:0001006)	Hypotrichosis	Occasional [Orphanet]	219 / 7739
60	(HPO:0002213)	Fine hair	Frequent [Orphanet]	77 / 7739
61	(HPO:0002164)	Nail dysplasia		82 / 7739
62	(HPO:0003220)	Abnormality of chromosome stability	Very frequent [Orphanet]	98 / 7739
63	(HPO:0001608)	Abnormality of the voice	Occasional [Orphanet]	126 / 7739
64	(HPO:0001252)	Muscular hypotonia	Frequent [Orphanet]	990 / 7739
65	(OMIM)	Delayed primary dentition		1 / 7739
66	(OMIM)	[DEL] Happy demeanor		5 / 7739
67	(OMIM)	Growth retardation, pre- and postnatal		3 / 7739
68	(OMIM)	Thin nose		1 / 7739
69	(OMIM)	Contiguous gene deletion syndrome		23 / 7739
70	(HPO:0040082)	Happy demeanor		6 / 7739
71	(HPO:0012758)	Neurodevelopmental delay	Very frequent [Orphanet]	949 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol	Variation	Clinical significance	Reference

Additional Information:

Clinical Description OMIM

Glass et al. (1989) reported a 16-year-old boy with severe mental retardation, microcephaly, and craniofacial dysmorphism associated with an interstitial deletion of chromosome 2q32.2-q33.1. He had no comprehensible speech and was totally dependent for all activities. Facial features ... Glass et al. (1989) reported a 16-year-old boy with severe mental retardation, microcephaly, and craniofacial dysmorphism associated with an interstitial deletion of chromosome 2q32.2-q33.1. He had no comprehensible speech and was totally dependent for all activities. Facial features included large beaked nose, ptosis, and cleft palate. He also had seizures and a striking scalloped skin pigmentation that did not follow Blaschko lines. Activity of isocitrate dehydrogenase (IDH1; 147700) was normal. Van Buggenhout et al. (2005) reported 4 unrelated patients with interstitial deletions of chromosome 2q32-q33. Common clinical features included pre- and postnatal growth retardation, severe mental retardation, thin and sparse hair, persistent feeding difficulties, inguinal hernia, and broad-based gait. Facial features included high long face, high forehead, ptosis, dacrocystitis, high nasal bridge, small mouth, teeth abnormalities, micrognathia, and cleft or high-arched palate. Two patients had seizures, and 3 had spasticity and contractures. Three patients had a specific behavioral phenotype with hyperactivity and motor restlessness, chaotic behavior, and happy personality intermixed with periods of aggression and anxiety, sleeping problems and self-mutilation. Array CGH and FISH analysis showed that all patients shared an 8.1-Mb minimal deleted region. The cleft or high-arched palate most likely resulted from hemizygosity for the SATB2 gene (608148). Rosenfeld et al. (2009) reported 3 unrelated patients with small heterozygous deletions of chromosome 2q33.1, ranging from 173.1 to 185.2 kb, that affected only the SATB2 gene. Parental samples from the mother were available for only 2 patients, and neither mother carried the deletion; parental samples were not available for the third patient. All patients had severe developmental delay, mental retardation, and tooth anomalies, but other features varied. Dentofacial anomalies included delayed primary dentition and micrognathia in 1 patient; cleft palate, crowded teeth, and small mandible in the second; and fused mandibular central incisors without cleft palate in the third. Two patients had behavioral abnormalities and mild dysmorphic features. Rosenfeld et al. (2009) concluded that haploinsufficiency for SATB2 is responsible for some of the clinical features associated with the 2q32-q33 deletion syndrome. Rifai et al. (2010) reported a 16-year-old girl, born of unrelated French Caribbean parents, with an interstitial 26.3-Mb deletion of chromosome 2q31.2-q33.2. She had prenatal and postnatal growth retardation, microcephaly, facial dysmorphism, cleft palate, camptodactyly, bilateral talipes equinovarus, severe intellectual disability, and ectodermal anomalies. Ectodermal anomalies included thin, atrophic skin, sparse, brittle, slowly growing hair, oligodontia with abnormally shaped teeth, normal sweating, and normal fingernails. These findings were consistent with a diagnosis of ectodermal dysplasia. The deletion resulted in hemizygosity for the HOXD gene (see, e.g., HOXD1; 142987) cluster and its regulatory elements, which may affect limb development. Haploinsufficiency of other genes such as COL3A1 (120180)/COL5A2 (120190), GTF3C3 (604888), CASP8 (601763), CASP10 (601762), and SATB2 may also influence the phenotype. Balasubramanian et al. (2011) reported 7 unrelated patients with different interstitial deletions of chromosome 2q33.1. The phenotype was variable, but common features included delayed psychomotor development, feeding difficulties early in life, and dysmorphic facies. Dysmorphic features could be delineated into 2 groups: one with upturned nose and myopathic facies, and another with a prominent nose and downslanting palpebral fissures. However, variable features were reported, including slightly low-set ears, sparse hair, high forehead, tented upper lip, downturned mouth corners, hypertelorism, long or short philtrum, and micrognathia. Three had cleft palate, 4 had high-arched palate, and most had dental crowding. Four had digital anomalies, such as overlapping toes, 2 had joint laxity, and 5 had behavioral anomalies, ranging from inappropriate hugging to hyperactivity and aggression.

Symptoms & Signs

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