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Distal monosomy 15q

General Information (adopted from Orphanet):

Synonyms, Signs:	DRAYER SYNDROME Telomeric 15q deletion Distal 15q deletion Monosomy 15q26 15q26 deletion
Number of Symptoms	26
OrphanetNr:	1596
OMIM Id:	612626
ICD-10:	Q93.5
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence:	No data available.
Inheritance:	Sporadic [Omim]
Age of onset:	Congenital onset [Omim]

Disease classification (adopted from Orphanet):

Parent Diseases:

Partial deletion of the long arm of chromosome 15
-Rare developmental defect during embryogenesis
-Rare genetic disease

Symptom Information: Sort by abundance

	Symptom Information	Symptom	DB Freq
1	(HPO:0000054)	Micropenis	257 / 7739
2	(HPO:0000047)	Hypospadias	250 / 7739
3	(HPO:0000028)	Cryptorchidism	347 / 7739
4	(HPO:0000347)	Micrognathia	426 / 7739
5	(HPO:0000581)	Blepharophimosis	197 / 7739
6	(HPO:0000431)	Wide nasal bridge	290 / 7739
7	(HPO:0000252)	Microcephaly	832 / 7739
8	(HPO:0000325)	Triangular face	91 / 7739
9	(HPO:0000486)	Strabismus	576 / 7739
10	(HPO:0000369)	Low-set ears	372 / 7739
11	(HPO:0001263)	Global developmental delay	853 / 7739
12	(HPO:0001249)	Intellectual disability	1089 / 7739
13	(HPO:0001156)	Brachydactyly syndrome	180 / 7739
14	(HPO:0005819)	Short middle phalanx of finger	28 / 7739
15	(HPO:0001762)	Talipes equinovarus	309 / 7739
16	(HPO:0001518)	Small for gestational age	107 / 7739
17	(HPO:0004322)	Short stature	1232 / 7739
18	(HPO:0001508)	Failure to thrive	454 / 7739
19	(HPO:0001511)	Intrauterine growth retardation	358 / 7739
20	(HPO:0001671)	Abnormality of the cardiac septa	55 / 7739
21	(OMIM)	Congenital cardiac anomalies	1 / 7739
22	(HPO:0003577)	Congenital onset	133 / 7739
23	(HPO:0003745)	Sporadic	131 / 7739
24	(HPO:0003812)	Phenotypic variability	129 / 7739
25	(MedDRA:10072883)	Brachydactyly	153 / 7739
26	(OMIM)	Absence or hypoplastic middle phalanges	1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol	Variation	Clinical significance	Reference

Additional Information:

Clinical Description OMIM

Drayer et al. (1977) reported 2 sibs with mental retardation and multiple congenital anomalies, including facial dysmorphism, and skeletal abnormalities. Rump et al. (2008) provided a follow-up of the patients reported by Drayer et al. (1977). Both patients ... Drayer et al. (1977) reported 2 sibs with mental retardation and multiple congenital anomalies, including facial dysmorphism, and skeletal abnormalities. Rump et al. (2008) provided a follow-up of the patients reported by Drayer et al. (1977). Both patients were born with microcephaly and showed growth retardation with failure to thrive. The older sister had excessive scalp hair, a broad nasal bridge, epicanthal folds, blepharophimosis, strabismus, low-set dysplastic ears, hyperextensible joints, and perceptive hearing loss. The younger brother had broad nasal bridge, epicanthal folds, blepharophimosis, divergent strabismus, low-set dysplastic ears, bilateral hearing loss, and an atrial septal defect. Both had moderate to severe mental retardation. Both also had brachydactyly characterized by short second and fifth fingers, small thumbs, and talipes equinovarus. Nails were normal. Radiographs showed absence of the middle phalanges of the second and fifth fingers, short middle phalanges of the third and fourth fingers, and short proximal phalanges of the thumbs. The toes also showed absent phalanges. There were no obvious anomalies of the internal organs. Roback et al. (1991) described a patient with a chromosome 15q26.1-qter deletion and monozygosity for the insulin-like growth factor I receptor gene (IGF1R; 147370). Clinical features included intrauterine growth retardation (IUGR), microcephaly, micrognathia, renal anomalies, lung hypoplasia, and delayed growth and development. The authors reviewed the clinical findings in patients with similar chromosome 15 deletions and speculated that the loss of an IGF1R allele may be related to the severe IUGR and postnatal growth deficiency observed in their patient and other patients with distal 15q deletions. Tonnies et al. (2001) reported a girl with IUGR, microcephaly, micrognathia, low-set ears, broad nasal bridge, and a complex congenital heart malformation including atrial and ventricular septal defects and coarctation of the aorta. Renal ultrasound showed slight ectasia of the left renal pelvis. FISH analysis showed a de novo terminal deletion of 15q26.1. Okubo et al. (2003) reported a girl had intrauterine growth retardation, postnatal growth failure, and recurrent hypoglycemia. Karyotype analysis identified a deletion on 15q26.2, and a FISH study using IGF1R probes showed only a single IGF1R gene. Walenkamp et al. (2008) reported a 15-year-old girl with heterozygous deletion of 15q26.2-qter, including the IGF1R gene, who had been small for gestational age and who showed persistent postnatal growth retardation, microcephaly, and elevated IGF1 levels. She had been treated with growth hormone since the age of 5 years, which resulted in a good growth response and normal adult height.

Symptoms & Signs

	Field	Query
	Disease
	Symptom