National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

2p15p16.1 microdeletion syndrome


Other Names:
2p15-p16.1 microdeletion syndrome; Del(2)(p15p16.1); Monosomy 2p15-p16.1; 2p15-p16.1 microdeletion syndrome; Del(2)(p15p16.1); Monosomy 2p15-p16.1; Monosomy 2p15p16.1 See More
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The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.
orphanet

Orpha Number: 261349

Definition
2p15p16.1 microdeletion syndrome is a recently described syndrome characterized by developmental delay and facial dysmorphism.

Epidemiology
It has been clinically and molecularly characterized in 5 patients.

Clinical description
Dysmorphic features include receding forehead, telecanthus, epicanthic fold, short and down-slanting palpebral fissures, ptosis, broad and high nasal bridge, retrognathia, flat philtrum, small mouth with high, narrow palate and everted lower lip. Ophthalmologic examination in 4 patients revealed bilateral optic atrophy/hypoplasia. Microcephaly, short stature, genitourinary abnormalities and behavioral problems are common.

Etiology
This syndrome is caused by an interstitial deletion 2p15p16.1 (present in mosaic in one patient). These de novo deletions were characterized by comparative genomic hybridisation (CGH) microarray and fluorescence in situ hybridization (FISH). They have a variable size from 570 kb to 5.7 Mb and encompass several genes. Haploinsufficiency of these genes could contribute to the phenotype.

Visit the Orphanet disease page for more resources.
Last updated: 6/1/2011

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

Showing of 99 |
Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Blepharophimosis
Narrow opening between the eyelids
0000581
Delayed speech and language development
Deficiency of speech development
Delayed language development
Delayed speech
Delayed speech acquisition
Delayed speech development
Impaired speech and language development
Impaired speech development
Language delay
Language delayed
Language development deficit
Late-onset speech development
Poor language development
Speech and language delay
Speech and language difficulties
Speech delay
[ more ] 		0000750
Downslanted palpebral fissures
Downward slanting of the opening between the eyelids
0000494
Epicanthus
Eye folds
Prominent eye folds
[ more ] 		0000286
Everted lower lip vermilion
Drooping lower lip
Outward turned lower lip
[ more ] 		0000232
Global developmental delay 0001263
High palate
Elevated palate
Increased palatal height
[ more ] 		0000218
Intellectual disability, moderate
IQ between 34 and 49
0002342
Long philtrum 0000343
Microcephaly
Abnormally small skull
Decreased circumference of cranium
Decreased size of skull
Reduced head circumference
Small head circumference
[ more ] 		0000252
Narrow mouth
Small mouth
0000160
Optic atrophy 0000648
Optic nerve hypoplasia 0000609
Prominent nasal bridge
Elevated nasal bridge
High nasal bridge
Prominent bridge of nose
Prominent nasal root
Protruding bridge of nose
Protruding nasal bridge
[ more ] 		0000426
Ptosis
Drooping upper eyelid
0000508
Smooth philtrum 0000319
Telecanthus
Corners of eye widely separated
0000506
Wide nasal bridge
Broad nasal bridge
Broad nasal root
Broadened nasal bridge
Increased breadth of bridge of nose
Increased breadth of nasal bridge
Increased width of bridge of nose
Increased width of nasal bridge
Nasal bridge broad
Wide bridge of nose
Widened nasal bridge
[ more ] 		0000431
30%-79% of people have these symptoms
Attention deficit hyperactivity disorder
Attention deficit
Attention deficit disorder
Attention deficit-hyperactivity disorder
Attention deficits
Childhood attention deficit/hyperactivity disorder
[ more ] 		0007018
Autism 0000717
Brachycephaly
Short and broad skull
0000248
Camptodactyly of finger
Permanent flexion of the finger
0100490
Failure to thrive
Faltering weight
Weight faltering
[ more ] 		0001508
Generalized hypotonia
Decreased muscle tone
Low muscle tone
[ more ] 		0001290
Hydronephrosis 0000126
Intrauterine growth retardation
Prenatal growth deficiency
Prenatal growth retardation
[ more ] 		0001511
Long eyelashes
Increased length of eyelashes
Unusually long eyelashes
[ more ] 		0000527
Lower limb spasticity 0002061
Low-set ears
Low set ears
Lowset ears
[ more ] 		0000369
Metatarsus adductus
Front half of foot turns inward
0001840
Narrow forehead
Decreased width of the forehead
0000341
Prominent nasal tip
Large nasal tip
Large tip of nose
Prominent tip of nose
Pronounced nasal tip
Pronounced tip of nose
[ more ] 		0005274
Protruding ear
Prominent ear
Prominent ears
[ more ] 		0000411
Recurrent respiratory infections
Frequent respiratory infections
Multiple respiratory infections
respiratory infections, recurrent
Susceptibility to respiratory infections
[ more ] 		0002205
Retrognathia
Receding chin
Receding lower jaw
Weak chin
Weak jaw
[ more ] 		0000278
Sloping forehead
Inclined forehead
Receding forehead
[ more ] 		0000340
Strabismus
Cross-eyed
Squint
Squint eyes
[ more ] 		0000486
Tapered finger
Tapered fingertips
Tapering fingers
[ more ] 		0001182
Visual impairment
Impaired vision
Loss of eyesight
Poor vision
[ more ] 		0000505
Wide intermamillary distance
Wide-spaced nipples
Widely spaced nipples
Widely-spaced nipples
[ more ] 		0006610
5%-29% of people have these symptoms
Aortic regurgitation 0001659
Bilateral single transverse palmar creases 0007598
Cerebellar hypoplasia
Small cerebellum
Underdeveloped cerebellum
[ more ] 		0001321
Decreased testicular size
Small testes
Small testis
[ more ] 		0008734
Dysarthria
Difficulty articulating speech
0001260
Dysphagia
Poor swallowing
Swallowing difficulties
Swallowing difficulty
[ more ] 		0002015
EEG abnormality 0002353
Enlarged thorax
Wide rib cage
0100625
Facial palsy
Bell's palsy
0010628
Feeding difficulties
Feeding problems
Poor feeding
[ more ] 		0011968
Fine hair
Fine hair shaft
Fine hair texture
Thin hair shaft
Thin hair texture
[ more ] 		0002213
Gait disturbance
Abnormal gait
Abnormal walk
Impaired gait
[ more ] 		0001288
Gynecomastia
Enlarged male breast
0000771
Hearing impairment
Deafness
Hearing defect
[ more ] 		0000365
High forehead 0000348
Hypogonadism
Decreased activity of gonads
0000135
Inguinal hernia 0000023
Kyphosis
Hunched back
Round back
[ more ] 		0002808
Laryngomalacia
Softening of voice box tissue
0001601
Mitral regurgitation 0001653
Multicystic kidney dysplasia 0000003
Nasal speech
Nasal voice
0001611
Patellar dislocation
Dislocated kneecap
0002999
Pectus excavatum
Funnel chest
0000767
Pes planus
Flat feet
Flat foot
[ more ] 		0001763
Polyhydramnios
High levels of amniotic fluid
0001561
Prominent metopic ridge 0005487
Sandal gap
Gap between 1st and 2nd toes
Gap between first and second toe
Increased space between first and second toes
Sandal gap between first and second toes
Wide space between 1st, 2nd toes
Wide space between first and second toes
Wide-spaced big toe
Widely spaced 1st-2nd toes
Widely spaced first and second toes
Widened gap 1st-2nd toes
Widened gap first and second toe
[ more ] 		0001852
Scoliosis 0002650
Sparse and thin eyebrow
Thin, sparse eyebrows
0000535
Supernumerary nipple
Accessory nipple
0002558
Tall stature
Increased body height
0000098
Toe clinodactyly 0001863
Ventriculomegaly 0002119
Percent of people who have these symptoms is not available through HPO
Arachnodactyly
Long slender fingers
Spider fingers
[ more ] 		0001166
Calcaneovalgus deformity 0001848
Camptodactyly
Permanent flexion of the finger or toe
0012385
Cerebral atrophy
Degeneration of cerebrum
0002059
Cortical dysplasia 0002539
Cryptorchidism
Undescended testes
Undescended testis
[ more ] 		0000028
Depressed nasal bridge
Depressed bridge of nose
Flat bridge of nose
Flat nasal bridge
Flat, nasal bridge
Flattened nasal bridge
Low nasal bridge
Low nasal root
[ more ] 		0005280
Feeding difficulties in infancy 0008872
High, narrow palate
Narrow, high-arched roof of mouth
Narrow, highly arched roof of mouth
[ more ] 		0002705
Hypoplasia of the corpus callosum
Underdevelopment of part of brain called corpus callosum
0002079
Hypoplasia of the pons 0012110
Intellectual disability
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ] 		0001249
Joint contracture of the hand 0009473
Kyphoscoliosis 0002751
Macrotia
Large ears
0000400
Micropenis
Short penis
Small penis
[ more ] 		0000054
Pachygyria
Fewer and broader ridges in brain
0001302
Posteriorly rotated ears
Ears rotated toward back of head
0000358
Recurrent upper respiratory tract infections
Recurrent colds
0002788
Sensorineural hearing impairment 0000407
Short palpebral fissure
Short opening between the eyelids
0012745
Short stature
Decreased body height
Small stature
[ more ] 		0004322
Spasticity
Involuntary muscle stiffness, contraction, or spasm
0001257
Sporadic
No previous family history
0003745
Thin upper lip vermilion
Thin upper lip
0000219
Showing of 99 |
Last updated: 7/1/2020

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

Where to Start

  • Unique is a source of information and support for families and individuals affected by rare chromosome disorders. Click on the link to view information about 2p15p16.1 microdeletion syndrome.

In-Depth Information

  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.

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