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Distal monosomy 10q

General Information (adopted from Orphanet):

Synonyms, Signs:	Distal deletion 10q TERMINAL CHROMOSOME 10q26 DELETION SYNDROME Monosomy 10qter Telomeric deletion 10q
Number of Symptoms	73
OrphanetNr:	96148
OMIM Id:	609625
ICD-10:	Q93.5
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence:	40 cases [Orphanet]
Inheritance:	Unknown Not applicable [Orphanet]
Age of onset:	Childhood [Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases:

Partial monosomy of the long arm of chromosome 10
-Rare developmental defect during embryogenesis
-Rare genetic disease

Symptom Information: Sort by abundance

	Symptom Information	Symptom	Abundance	DB Freq
1	(HPO:0000316)	Hypertelorism		644 / 7739
2	(HPO:0000486)	Strabismus		576 / 7739
3	(HPO:0004322)	Short stature		1232 / 7739
4	(HPO:0001518)	Small for gestational age		107 / 7739
5	(HPO:0001631)	Atria septal defect		274 / 7739
6	(HPO:0001671)	Abnormality of the cardiac septa		55 / 7739
7	(HPO:0001643)	Patent ductus arteriosus		228 / 7739
8	(HPO:0011648)	Patent ductus arteriosus after birth at term		18 / 7739
9	(HPO:0001939)	Abnormality of metabolism/homeostasis		328 / 7739
10	(HPO:0001252)	Muscular hypotonia		990 / 7739
11	(HPO:0008947)	Infantile muscular hypotonia		482 / 7739
12	(HPO:0010547)	Muscle flaccidity		466 / 7739
13	(HPO:0001324)	Muscle weakness		859 / 7739
14	(HPO:0000718)	Aggressive behavior		109 / 7739
15	(HPO:0001328)	Specific learning disability		114 / 7739
16	(HPO:0001263)	Global developmental delay	variable [HPO:skoehler]	853 / 7739
17	(HPO:0001249)	Intellectual disability		1089 / 7739
18	(HPO:0000736)	Short attention span		16 / 7739
19	(HPO:0000750)	Delayed speech and language development		197 / 7739
20	(HPO:0002136)	Broad-based gait		30 / 7739
21	(HPO:0000752)	Hyperactivity		140 / 7739
22	(HPO:0001250)	Seizures		1245 / 7739
23	(HPO:0009466)	Radial deviation of finger		101 / 7739
24	(HPO:0001770)	Toe syndactyly		149 / 7739
25	(HPO:0001159)	Syndactyly		140 / 7739
26	(HPO:0001377)	Limited elbow extension		38 / 7739
27	(HPO:0000347)	Micrognathia		426 / 7739
28	(HPO:0000268)	Dolichocephaly		144 / 7739
29	(HPO:0001363)	Craniosynostosis	rare [HPO:skoehler]	132 / 7739
30	(HPO:0004440)	Coronal craniosynostosis		38 / 7739
31	(HPO:0002007)	Frontal bossing		366 / 7739
32	(HPO:0000252)	Microcephaly		832 / 7739
33	(HPO:0011324)	Multiple suture craniosynostosis		22 / 7739
34	(HPO:0001547)	Abnormality of the rib cage		25 / 7739
35	(HPO:0000470)	Short neck		345 / 7739
36	(HPO:0002162)	Low posterior hairline		88 / 7739
37	(HPO:0001792)	Small nail		55 / 7739
38	(HPO:0000054)	Micropenis		257 / 7739
39	(HPO:0000046)	Scrotal hypoplasia		54 / 7739
40	(HPO:0000028)	Cryptorchidism		347 / 7739
41	(HPO:0000494)	Downslanted palpebral fissures		328 / 7739
42	(HPO:0000324)	Facial asymmetry		57 / 7739
43	(HPO:0000325)	Triangular face		91 / 7739
44	(HPO:0000582)	Upslanted palpebral fissure		185 / 7739
45	(HPO:0000343)	Long philtrum		262 / 7739
46	(HPO:0000219)	Thin upper lip vermilion		112 / 7739
47	(HPO:0000454)	Flared nostrils		11 / 7739
48	(HPO:0000444)	Convex nasal ridge		87 / 7739
49	(HPO:0000448)	Prominent nose		56 / 7739
50	(HPO:0000431)	Wide nasal bridge		290 / 7739
51	(HPO:0000286)	Epicanthus		371 / 7739
52	(HPO:0000407)	Sensorineural hearing impairment		524 / 7739
53	(HPO:0008527)	Congenital sensorineural hearing impairment		165 / 7739
54	(HPO:0008625)	Severe sensorineural hearing impairment		150 / 7739
55	(HPO:0000465)	Webbed neck		81 / 7739
56	(HPO:0006610)	Wide intermamillary distance		46 / 7739
57	(HPO:0000369)	Low-set ears		372 / 7739
58	(HPO:0000411)	Protruding ear		140 / 7739
59	(HPO:0000076)	Vesicoureteral reflux		94 / 7739
60	(HPO:0008897)	Postnatal growth retardation		113 / 7739
61	(HPO:0000006)	Autosomal dominant inheritance		2518 / 7739
62	(HPO:0030084)	Clinodactyly		90 / 7739
63	(HPO:0003812)	Phenotypic variability		129 / 7739
64	(HPO:0003745)	Sporadic		131 / 7739
65	(MedDRA:10058668)	Clinodactyly		91 / 7739
66	(OMIM)	Affectionate behavior		1 / 7739
67	(OMIM)	Contiguous gene deletion syndrome		23 / 7739
68	(OMIM)	Cytogenetic breakpoints range from 10q23.3-q26.2		1 / 7739
69	(OMIM)	Cytogenetic deletion of the terminal region of chromosome 10 (del(10)(q23.3-qter))		1 / 7739
70	(OMIM)	Developmental delay, variable		1 / 7739
71	(OMIM)	Rotated ears		1 / 7739
72	(OMIM)	Structural inner ear abnormalities (in patients with larger deletions)		1 / 7739
73	(OMIM)	Vestibular anomalies (less common)		1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol	Variation	Clinical significance	Reference

Additional Information:

Clinical Description OMIM

Mehta et al. (1987) reported a boy with deletion of chromosome 10q26. He showed developmental delay and moderate mental retardation. Physical characteristics included short stature, microcephaly, dolichocephaly, triangular face, prominent nasal root with beaked nose and flared nostrils, ... Mehta et al. (1987) reported a boy with deletion of chromosome 10q26. He showed developmental delay and moderate mental retardation. Physical characteristics included short stature, microcephaly, dolichocephaly, triangular face, prominent nasal root with beaked nose and flared nostrils, long philtrum, small pointed jaw, and convergent strabismus. He also had fifth finger clinodactyly, limited elbow extension, and undescended testes. All who worked with him noted hyperkinesis and aggressive behavior with limited attention span and diminished need for sleep. He alternated between being provocative or destructive and affectionate. Tanabe et al. (1999) reported a male infant with a de novo terminal deletion of chromosome 10q26.11. He had multiple anomalies including beaked nose, malformed and low-set ears, short and webbed neck, low posterior hairline, widely spaced nipples, limited left elbow extension, cryptorchidism, small penis, and hypoplastic scrotum. Patent ductus arteriosus was also present. In a review of the literature, Tanabe et al. (1999) stated that 25 patients had been reported. Ten (83%) of 12 males with chromosome 10q deletions had cryptorchidism. Irving et al. (2003) reported 8 familial and 4 de novo cases of terminal 10q deletion syndrome, and 3 cases with interstitial deletion of 10q25.2-q26.3. One family had 6 affected members with terminal deletion of 10q26.2-ter, and the oldest living individual was 63 years old. Common features included facial asymmetry, prominent nose, thin upper lip, strabismus, low birth weight, short stature and fifth finger clinodactyly. Variable degrees of learning difficulty were found in 11 patients, and four had seizures. Four patients had violent mood swings and aggression, whereas 2 had affectionate behavior. Visceral abnormalities were uncommon: 3 patients had renal anomalies, 2 with vesicoureteral reflux and 1 with acute renal failure of unknown etiology, and 2 patients had an atrial septal defect. Only 2 patients were male, both of whom had cryptorchidism. Irving et al. (2003) suggested that the consistent clinical findings supported the existence of a distinct 10q deletion syndrome, as had been suggested by Wulfsberg et al. (1989) and Schrander-Stumpel et al. (1991). Courtens et al. (2006) described a 13-year-old girl with a de novo subterminal 10q26.2 deletion of approximately 6.1 Mb and typical clinical findings of monosomy 10qter syndrome, including mental retardation, pre- and postnatal growth retardation, microcephaly at birth, and strabismus. The authors reviewed the clinical and behavioral phenotype of 15 reported patients with 'pure' subterminal 10q deletion. Miller et al. (2009) reported 4 unrelated children with de novo heterozygous deletions of the chromosome 10q25.3 to 10qter region. All had variable dysmorphic facial features, delayed psychomotor development, and poor speech and language development. The first girl had frontal bossing, widow's peak, strabismus, stellate irides, and bilateral fifth finger clinodactyly. She walked at 20 months; at age 3 years she had an unsteady gait and could only speak 4 words. FISH analysis followed by SNP studies identified a 6.1-Mb deletion at chromosome 10q26.2-qter on the paternal chromosome. The second girl had strabismus, mild epicanthal folds, a mildly recessed columella, tapered fingers, and axial hypotonia. By 14 months of age, she was not walking independently, babbling, or speaking. She also had a 6.1-Mb deletion at chromosome 10q26.2-qter that was 57 kb larger than that found in the first child. The third child was a boy with failure to thrive, triangular face, brachycephaly, long broad forehead, strabismus, hypotelorism, small nose with a prominent nasal bridge, hypoplastic toenails, and hypotonia. He also had bilateral congenital sensorineural hearing loss with multiple inner ear malformations involving both the cochlear and vestibular organs. He had a 12.4-Mb deletion at chromosome 10q26.12-qter, involving at least 78 genes. The fourth child was a boy with ambiguous genitalia with bilateral cryptorchidism, failure to thrive, prominent metopic suture, bitemporal narrowing, prominent eyes, bilateral epicanthal folds, downslanting palpebral fissures, prominent ears, and mild micrognathia with a high-arched palate. He also had congenital sensorineural hearing loss, craniosynostosis, and inner ear structural abnormalities. He had an interstitial deletion at chromosome 10q25.3-q26.13 encompassing about 46 genes on the paternal chromosome. The 2 patients with the largest deletions had loss of the HMX2 (600647) and HMX3 (613380) genes, which may play a role in the hearing loss and structural abnormalities of the inner ear. Yatsenko et al. (2009) reported 5 individuals from 4 families with distal 10q deletion syndrome. The familial cases involved a 25-year-old man who had history of bilateral hip dysplasia, anxiety disorder, learning difficulties, and mildly dysmorphic facial features, including triangular face, prominent nose, low-set ears, and micrognathia. His affected 2-year-old daughter had failure to thrive, developmental delay, dislocated hip, poor speech development, and similar dysmorphic features as her father. Array CGH analysis showed a heterozygous interstitial 5.8-Mb deletion of chromosome 10q26.12-q26.2 in both father and daughter. The 3 unrelated patients had a variety of congenital defects, including dysmorphic facies, patent ductus arteriosus, genitourinary anomalies, mental retardation, and attention-deficit hyperactivity disorder. One also had autistic features. The smallest region of overlap in all affected individuals was an approximately 600-kb segment at 10q26.2, encompassing the DOCK1 (601403) and C10ORF90 genes. The common features among these patients were craniofacial dysmorphism, various degrees of mental retardation, and generalized growth failure. One patient with genitourinary anomalies, including ambiguous genitalia and imperforate anus, had a larger 15 to 20-Mb deletion of chromosome 10q25.13-q26.3. Yatsenko et al. (2009) hypothesized that haploinsufficiency for the DOCK1 gene, which is involved in multiple signaling pathways, may underlie the phenotypic variability in this disorder.

Symptoms & Signs

	Field	Query
	Disease
	Symptom