Blepharophimosis intellectual disability syndromes are a group of rare

genetic disorders A genetic disorder is a health problem caused by one or more abnormalities in the genome. It can be caused by a mutation in a single gene (monogenic) or multiple genes (polygenic) or by a chromosome abnormality. Although polygenic disorders are ...

which are characterized by

blepharophimosis Blepharophimosis is a congenital anomaly in which the eyelids are underdeveloped such that they cannot open as far as usual and permanently cover part of the eyes. Both the vertical and horizontal palpebral fissures (eyelid openings) are shortene ...

, ptosis, and

intellectual disabilities Intellectual disability (ID), also known as general learning disability (in the United Kingdom), and formerly mental retardation (in the United States), Rosa's Law, Pub. L. 111-256124 Stat. 2643(2010).Archive is a generalized neurodevelopmental ...

. These disorders usually follow either autosomal recessive, autosomal dominant,

x-linked recessive ''Main Article'': Sex linkage X-linked recessive inheritance is a mode of Mendelian inheritance, inheritance in which a mutation in a gene on the X chromosome causes the phenotype to be always expressed in males (who are necessarily hemizygous for ...

, or

mitochondrial A mitochondrion () is an organelle found in the cells of most eukaryotes, such as animals, plants and fungi. Mitochondria have a double membrane structure and use aerobic respiration to generate adenosine triphosphate (ATP), which is used ...

inheritance patterns.

Types

Oculocerebrofacial syndrome, Kaufman type

Oculocerebrofacial syndrome is a very rare autosomal recessive type of BIDS which is characterized by profound

, cranio-facial dysmorphisms (including blepharophimosis), and other congenital ocular-brain-urogenital-skeletal anomalies. Only 19 cases have been reported in medical literature.

Blepharophimosis-intellectual disability syndrome, MKB type

This is a rare, X-linked recessive type of BIDS which is characterized by developmental and speech delay, intellectual disabilities, urogenital anomalies, facial dysmorphisms (including blepharophimosis), and autistic-like behavior. Additional findings include

joint hypermobility Hypermobility, also known as double-jointedness, describes joints that stretch farther than normal. For example, some hypermobile people can bend their thumbs backwards to their wrists, bend their knee joints backwards, put their leg behind the ...

hearing loss Hearing loss is a partial or total inability to hear. Hearing loss may be present at birth or acquired at any time afterwards. Hearing loss may occur in one or both ears. In children, hearing problems can affect the ability to acquire spo ...

, dental anomalies, and

microcephaly Microcephaly (from Neo-Latin ''microcephalia'', from Ancient Greek μικρός ''mikrós'' "small" and κεφαλή ''kephalé'' "head") is a medical condition involving a smaller-than-normal head. Microcephaly may be present at birth or it m ...

Ohdo syndrome

Also known Blepharophimosis-intellectual disability syndrome, Ohdo type, it is a very rare type of BIDS that is characterized by blepharophimosis, ptosis, intellectual disabilities, hearing loss, and underdevelopment of teeth. Autosomal recessive, dominant, X-linked recessive, and mitochondrial inheritance patterns have been suggested. Only 30 cases have been described in medical literature.

Say-Barber-Biesecker-Young-Simpson syndrome

Also known as Blepharophimosis-intellectual disability syndrome, SBBYS type, it is a very rare autosomal dominant type of BIDS which is characterized by craniofacial dysmorphisms, skeletal anomalies,

developmental delay The term developmental delay can refer to: *Global developmental delay, an umbrella term used when children are significantly delayed in two or more areas of development *Specific developmental disorder, a classification of disorders characterize ...

hypotonia Hypotonia is a state of low muscle tone (the amount of tension or resistance to stretch in a muscle), often involving reduced muscle strength. Hypotonia is not a specific medical disorder, but it is a potential manifestation of many different dis ...

, and

. It is caused by mutations in the KAT6B gene in chromosome 10. Only 122 cases have been described in medical literature.

Blepharophimosis-intellectual disability syndrome, Verloes type

This is a very rare type of BIDS which is characterized by craniofacial dysmorphisms,

epilepsy Epilepsy is a group of Non-communicable disease, non-communicable Neurological disorder, neurological disorders characterized by a tendency for recurrent, unprovoked Seizure, seizures. A seizure is a sudden burst of abnormal electrical activit ...

, hypsarrythmia,

, psycho-motor delays, and genital anomalies. It's inheritance pattern is unknown.

Blepharophimosis-intellectual disability syndrome/genitopatellar overlap syndrome

References

{{reflist Syndromes with intellectual disability Rare genetic syndromes Medical genetics