Nablus mask-like facial syndrome

Rare Medical News

4722

Rare Medical News

Disease Profile

<1 / 1 000 000

331

US Estimated

514

Europe Estimated

Age of onset

Infancy

ICD-10

Q93.5

Inheritance

Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype.

X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.

Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

Not applicable

Other names (AKA)

8q22.1 microdeletion syndrome

Summary

Nablus mask-like facial syndrome is a rare microdeletion syndrome that is characterized by a mask-like facial appearance. Facial features include narrowing of the eye opening (blepharophimosis); tight appearing glistening facial skin; and flat and broad nose. Other features include malformed ears; unusual scalp hair pattern; permanently bent fingers and toes (camptodactyly); joint deformities (contractures) that restrict movement in the hands and feet; unusual dentition; mild developmental delay; undescended testicles in males (cryptorchidism); and a happy disposition. This condition is caused by a deletion at chromosome 8q22.1.^[1]

Symptoms

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.

Medical Terms	Other Names	Learn More: HPO ID
80%-99% of people have these symptoms
Abnormal hair pattern	Abnormal distribution of hair	0010720
Abnormality of the antihelix		0009738
Blepharophimosis	Narrow opening between the eyelids	0000581
Conspicuously happy disposition		0100024
Cryptorchidism	Undescended testes Undescended testis [ more ]	0000028
Depressed nasal ridge	Flat nose Recessed nasal ridge [ more ]	0000457
Highly arched eyebrow	Arched eyebrows Broad, arched eyebrows High, rounded eyebrows High-arched eyebrows Thick, flared eyebrows [ more ]	0002553
Lack of skin elasticity		0100679
Long philtrum		0000343
Low-set ears	Low set ears Lowset ears [ more ]	0000369
Mask-like facies	Expressionless face Lack of facial expression Mask-like facial appearance [ more ]	0000298
Skin dimple		0010781
Sparse and thin eyebrow	Thin, sparse eyebrows	0000535
Telecanthus	Corners of eye widely separated	0000506
Underfolded helix		0008577
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
Abnormality of the dentition	Abnormal dentition Abnormal teeth Dental abnormality [ more ]	0000164
Camptodactyly of finger	Permanent flexion of the finger	0100490
Global developmental delay		0001263
Hypogonadism	Decreased activity of gonads	0000135
Hypoplasia of the maxilla	Decreased size of maxilla Decreased size of upper jaw Maxillary deficiency Maxillary retrusion Small maxilla Small upper jaw Small upper jaw bones Upper jaw deficiency Upper jaw retrusion [ more ]	0000327
Limitation of joint mobility	Decreased joint mobility Decreased mobility of joints Limited joint mobility Limited joint motion [ more ]	0001376
Microcephaly	Abnormally small skull Decreased circumference of cranium Decreased size of skull Reduced head circumference Small head circumference [ more ]	0000252
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
Short neck	Decreased length of neck	0000470
Wide intermamillary distance	Wide-spaced nipples Widely spaced nipples Widely-spaced nipples [ more ]	0006610
5%-29% of people have these symptoms
Abnormality of the nares	Abnormality of the nostrils	0005288
Craniosynostosis		0001363
Finger syndactyly		0006101
Sparse eyelashes	Scant eyelashes Scanty eyelashes Thin eyelashes [ more ]	0000653
Submucous cleft hard palate		0000176
Percent of people who have these symptoms is not available through HPO
Autosomal dominant inheritance		0000006
Autosomal recessive inheritance		0000007
Broad neck	Increased width of neck Wide neck [ more ]	0000475
Camptodactyly	Permanent flexion of the finger or toe	0012385
Clinodactyly	Permanent curving of the finger	0030084
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
Frontal bossing		0002007
Frontal upsweep of hair	Cowlick Frontal Cowlick Upswept frontal hair [ more ]	0002236
Happy demeanor		0040082
High palate	Elevated palate Increased palatal height [ more ]	0000218
Hypertelorism	Wide-set eyes Widely spaced eyes [ more ]	0000316
Hypoplastic nipples	Small nipples	0002557
Joint contracture of the hand		0009473
Labial hypoplasia	Underdeveloped labia	0000066
Low anterior hairline	Low frontal hairline Low-set frontal hairline [ more ]	0000294
Micropenis	Short penis Small penis [ more ]	0000054
Narrow forehead	Decreased width of the forehead	0000341
Narrow mouth	Small mouth	0000160
Posteriorly rotated ears	Ears rotated toward back of head	0000358
Postnatal microcephaly		0005484
Prominent glabella	Prominent area between the eyebrows Protruding area between the eyebrows [ more ]	0002057
Retrognathia	Receding chin Receding lower jaw Weak chin Weak jaw Organizations 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 Chromosome Disorder Outreach (CDO) PO Box 724 Boca Raton, FL 33429 Telephone: +1-561-395-4252 E-mail: https://chromodisorder.org/contact/ Website: https://chromodisorder.org/ Unique – Rare Chromosome Disorder Support Group G1, The Stables Station Road West Surrey RH8 9EE United Kingdom Telephone: +44 (0)1883 723356 E-mail: info@rarechromo.org Website: https://www.rarechromo.org/ Learn more 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. In-Depth Information The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition. 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. PubMed is a searchable database of medical literature and lists journal articles that discuss Nablus mask-like facial syndrome. Click on the link to view a sample search on this topic. References 8q22.1 microdeletion syndrome. Orphanet. October 2010; https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=178303. Accessed 1/12/2012. Rare Medical News Features Rare Disease Profiles 5 Facts Rare IQ Rare Mystery Spotlight On News Contact Us Advertising and Sponsorship About The Rare Medical Network Our mission is to inform the healthcare community about the diagnosis and management of rare diseases. Help us by sharing this important information with your peers. Rare Medical News websites sources information from: Orpha Net, The Genetic and Rare Diseases Information Center (GARD), PubMed and ClinicalTrials.gov. Rare Medical News is strictly a news and information website about rare diseases. It does not provide medical advice, diagnosis or treatment. This content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. © 2023 Rare Medical News. All Rights Reserved. Privacy Policy \| Terms of Service The Rare Medical Network Rare Cardiology News Rare Dermatology News Rare Endocrinology News Rare Gastroenterology News Rare Hematology News Rare Infectious Disease News Rare Immunology News Rare Nephrology/Urology News Rare Neurology News Rare Oncology News Rare Ophthalmology News Rare Pediatrics News Rare Primary Care News Rare Psychiatry News Rare Pulmonology News Rare Rheumatology News

Rare Medical News

Rare Medical News

Infancy

Q93.5

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease.

Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype.

X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.

Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

Not applicable

Other names (AKA)

Categories

Summary

Symptoms

Organizations

Organizations Supporting this Disease

Learn more

In-Depth Information

References

Rare Medical News

Rare Medical News

Infancy

Q93.5

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease.

Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype.

X-linked dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

X-linked recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.

Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

Not applicable

Other names (AKA)

Categories

Summary

Symptoms

Organizations

Organizations Supporting this Disease

Learn more

In-Depth Information

References

X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.