Coffinsiris syndrome is a condition that affects several body systems. Although there are many variable signs and symptoms, hallmarks of this condition include developmental disability, abnormalities of the fifth pinky fingers or toes, and characteristic facial features. Enable javascript to view the expandcollapse boxes. See the articles of incorporation, certificate of incorporation, and 501 c3 acceptance letter. Coffin siris syndrome is a rare genetic disorder, also known as fifth digit syndrome.
Coffinsiris syndrome with obesity, macrocephaly, hepatomegaly. Coffinsiris syndrome is a rare genetic disorder that causes developmental delays and absent fifth finger and toe nails. In this syndrome, the most frequent findings include. It is incorporated as a nonprofit and allvolunteer run. Coffin siris syndrome is a condition that affects several body systems. Due to the clinical variability of facial and other features, this diagnosis is often difficult to confirm clinically and the existence of this disorder as a specific diagnosis has been at times an issue of debate. Coffinsiris syndrome is inherited in an autosomal dominant manner. Coffin lowry syndrome is a condition that affects many parts of the body. We report on a patient with coffinsiris syndrome and consider a potential association between this condition and difficult intubation. Musculoskeletal changes such as noninflammatory prominence of interphalangeal joints in hands, feet, and, to a lesser extent, knee joints. Coffinsiris syndrome also known as css or fifthdigit syndrome is caused by a genetic anomaly and in many cases the mutation of a gene cannot be identified. Pdf coffinsiris syndrome css is a rare, clinically heterogeneous disorder considered in the setting of prenatal onset of mild to moderate. Proposed minimal criteria for the clinical diagnosis of css are developmental or cognitive delay, which may range from mild to. This disorder is characterized by the absence of the nails of the fifth fingers and toes, severe mental and developmental retardation, and postnatal growth deficiency.
Typical features included underweight at birth, growth retardation, microcephaly, profound mental retardation, severe hy. Epidemiology it occurs more frequently in females with a m. Coffinsiris syndrome is a rare genetic disorder, also known as fifth digit syndrome. This is because most people with arid1b syndrome were first diagnosed with a different disorder coffin siris syndrome, or css and this may have somewhat different effects to arid1b syndrome. Difficult airway in a patient with coffinsiris syndrome. View enhanced pdf access article on wiley online library html view download pdf for offline viewing. Genetic abnormalities in a large cohort of coffinsiris. Coffinsiris and nicolaidesbaraitser syndromes are a common well recognizable cause of intellectual disability. In some cases, no genetic mutation can be identified and the cause of coffin siris syndrome in the family remains unknown. In some cases, no genetic mutation can be identified and the cause of coffinsiris syndrome in the family remains unknown. The treatment of the coffin siris syndrome in children may vary depending on the different symptoms present in the patient.
Inflammatory arthritis as a possible feature of coffin. Css coffin siris syndrome css is a rare congenital multisystemic genetic disorder characterized by aplasia or hypoplasia of the distal phalanx or nail of the fifth digit, developmental delay, intellectual. Coffin siris syndrome nord national organization for. It is hoped that by further understanding this mechanism, scientists will gain a deeper understanding of more common diseases that share symptoms with coffin siris syndrome. Choanal atresia in two unrelated patients with the coffin siris syndrome.
Coffin siris syndrome css and nicolaidesbaraitser syndrome nbs are 2 overlapping syndromes caused by mutations in genes of the brg1brmassociated factor chromatinremodeling complex, presenting with multiple malformations and intellectual disability. It usually occurs for the first time in a family due to a new mutation. Dec 20, 2017 while coffin siris syndrome is less common than most, it does share the trend of being tied to arid1b mutation. The coffinsiris syndrome jama pediatrics jama network.
Most affected individuals have mild to severe intellectual disability. Coffin gs 1 and bartsocas cs 2first time reported coffin siris syndrome in association with cardiovascular malformation in the form of cutaneous hemangioma. Css coffinsiris syndrome css is a rare congenital multisystemic genetic disorder characterized by aplasia or hypoplasia of the distal phalanx or nail of the fifth digit, developmental delay, intellectual disability, coarse facial features, hypotonia. Craniofacial malformations may include an abnormally small head microcephaly or large head macrocephaly. Coffinsiris syndrome is a rare genetic disorder that may be evident at birth. When considering symptoms of coffinsiris syndrome, it is also important to consider coffinsiris syndrome as a possible cause of other medical conditions. Coffin siris syndrome also known as fifth digit syndrome is a very rare genetic syndrome. Males with coffinlowry syndrome typically have severe to profound intellectual disability and delayed. Of our 2018 expenses, 96% was spent on the conference. Feeding and respiratory problems are prominent features. Coffin siris and nicolaidesbaraitser syndromes are a common well recognizable cause of intellectual disability. While coffinsiris syndrome is less common than most, it does share the trend of being tied to arid1b mutation. Mental retardation with absent fifth fingernail and terminal phalanx. Coffin siris syndrome nord national organization for rare.
Is this the coffinsiris syndrome or the bod syndrome. A proposed diagnostic approach and assessment of 15 overlapping cases. We present the sixth reported case of the coffinsiris syndrome. Coffinsiris syndrome is an autosomal dominant condition. Auditory brain stem response recording suggested bilaterally normal hearing. Coffinsiris syndrome css is a congenital disorder characterized by growth deficiency, intellectual disability, microcephaly, characteristic. Coffinsiris syndrome css is a rare congenital multisystemic genetic disorder characterized by aplasia or hypoplasia of the distal phalanx or nail of the fifth. In some cases, surgery is required to cure some malfunctions caused by this disorder. Coffinlowry syndrome is a condition that affects many parts of the body. Css1 to ensure longterm funding for the omim project, we have diversified our revenue stream.
Characteristic major features include mild to severe developmental or cognitive delay in all patients, fifth finger naildistal phalanx hypoplasia or aplasia almost all patients at birth, and coarse. Coffinsiris syndrome css and nicolaidesbaraitser syndrome nbs are 2 overlapping syndromes caused by mutations in genes of the brg1brmassociated factor chromatinremodeling complex, presenting with multiple malformations and intellectual disability. Coffinsiris syndrome foundation was started in 2017 by a group of parents of kids with css. In addition, affected children usually have malformations in the fingers and toes, and eye abnormalities.
It is characterized by abnormalities of the head and craniofacial area that results in a coarse facial appearance. Even though the condition is highly variable, the main hallmarks are abnormalities of the fifth finger, developmental disability of variable grade, hirsutism and coarse facial features. Schwannomatosis is a particular form of neurofibromatosis coffinsiris and schwannomatosis are related to mutations of smarcb1 gene wandering spleen has not described as related to coffinsiris syndrome a particular puntiform mutation of smarcb1 could be the cause. This disorder is characterized by the absence or hypoplasia of the nails, especially those of the fifth fingers and toes, growth retardation and mental deficiency, microcephaly, coarse facial appearance, sparse scalp hair and lax joints.
Speechlanguage profile of a child with coffinsiris syndrome. Pdf speechlanguage profile of a child with coffinsiris. Coffinsiris syndrome css, mim 5900 is a rare genetic disorder. Coffinsiris syndrome is a rare genetic disorder also known as the fifthdigit syndrome. Coffinsiris syndrome css is a rare, clinically heterogeneous disorder often considered in the setting of cognitivedevelopmental delay and. This latter feature would become a key cue for considering the. Characteristic features include eyebrow hypertrichosis, long eyelashes, flat nasal. The signs and symptoms are usually more severe in males than in females, although the features of this disorder range from very mild to severe in affected women. Although this inherited condition is extremely rare, anesthesiologists should be aware of its existence and. This individual has not been registered in the cssbaf registry at coffin siris syndrome foundation due to parental preference. Jan 05, 2016 coffin siris syndrome is an autosomal dominant condition. When considering symptoms of coffin siris syndrome, it is also important to consider coffin siris syndrome as a possible cause of other medical conditions. American journal of diseases of children, chicago, 1970, 119.
Coffinsiris syndrome as a cause of symptoms or medical conditions. Coffinsiris syndrome is a clinically and genetically heterogeneous disorder. The disease database lists the following medical conditions that coffinsiris syndrome may cause. Clinical features, diagnostic criteria, and management of. Four additional cases of the coffinsiris syndrome bring the number of reported cases to 16. Coffinsiris syndrome, first described in 1970, is a rare genetic abnormality. Coffinsiris syndrome css is classically characterized by aplasia or hypoplasia of the distal phalanx or nail of the fifth and additional digits, developmental or cognitive delay of varying degree, distinctive facial features, hypotonia, hirutismhypertrichosis, and sparse scalp hair.
A syndrome ofsevere retardation of postnatal growth, mental retardation, lax joints. Request pdf coffin siris syndrome a 9monthold boy with coffin siris syndrome is described. Candidate region for coffinsiris syndrome at 7q3234. Apr 04, 20 coffin siris syndrome css is classically characterized by aplasia or hypoplasia of the distal phalanx or nail of the fifth and additional digits, developmental or cognitive delay of varying degree, distinctive facial features, hypotonia, hirutismhypertrichosis, and sparse scalp hair. This individual has not been registered in the cssbaf registry at coffinsiris syndrome foundation due to parental preference. Coffin siris syndrome css is a rare genetic disorder typically characterized by hypoplastic or absent 5 th digit nails or phalanges, moderate to severe developmental, intellectual, andor speech delay, hypertrichosis, and coarse facial features, yet there is a large degree of clinical variability 1. Auditory brain stem response recording suggested bilaterally.
Musculoskeletal changes such as noninflammatory prominence of interphalangeal joints in. Congenital anomalies can include malformations of the cardiac, gastrointestinal, genitourinary, andor. The coffinsiris syndrome journal of medical genetics. Coffin siris syndrome foundation was started in 2017 by a group of parents of kids with css. However, no treatment can completely cure the coffin siris syndrome.
Coffinsiris syndrome css is a rare, clinically heterogeneous disorder often considered in the setting of cognitivedevelopmental delay and 5 th fingernail hypoplasia. It is hoped that by further understanding this mechanism, scientists will gain a deeper understanding of more common diseases that share symptoms with coffinsiris syndrome. Inflammatory arthritis as a possible feature of coffinsiris. Administration of general anesthesia in patients who have. There was decreased fetal activity and intrauterine growth retardation. Coffin gs and bartsocas cs first time reported coffinsiris syndrome in association with cardiovascular malformation in the form of cutaneous hemangioma. Coffinsiris syndrome css is a congenital disorder characterized by growth deficiency, intellectual disability, microcephaly, characteristic facial features and hypoplastic nails of the fifth. Fewer than 20 people with a change in the arid1b gene or loss of.
Analysis of functioning in a 12yearold boy with coffin. Typical features included underweight at birth, growth retardation, microcephaly, profound mental retardation, severe hypotonia with lax joints, feeding difficulties and frequent respiratory tract infections. Four additional cases of the coffin siris syndrome bring the number of reported cases to 16. Knowledge about arid1b syndrome is only just emerging, and much remains to be learnt. Congenital anomalies can include malformations of the cardiac, gastrointestinal. The number of occurrences since then has grown and is now reported to be around 80. The disorder may be characterized by abnormalities of the head and facial craniofacial area, resulting in a coarse facial appearance. Coffinsiris syndrome also known as fifth digit syndrome is a very rare genetic syndrome. Coffinsiris syndrome should not be confused with coffinlowry syndrome. The original three probands showed coarse facial features, sparsescalphair,andnotably,hypoplasiaof the fifth digit phalangesnails coffin and siris, 1970. The disease database lists the following medical conditions that coffin siris syndrome may cause.
It involves a wide range of major and minor clinical findings. The smarcb1 gene is one of several genes encoding subunits of the swisnf complex, also known as the baf complex, which functions as a chromatin remodeling factor. Coffin siris syndrome as a cause of symptoms or medical conditions. See the articles of incorporation, certificate of incorporation, and 501c3 acceptance letter. Carey jc 3 two of their six cases had tetralogy of fallot tof, proved by cardiac catheterization. Simple schwannomatosis or an incomplete coffinsiris. Autosomal recessive mode of inheritance of a coffin siris like syndrome. Coffinsiris syndrome genetic and rare diseases information. Soeren turan, tom boerstler, atria kavyanifar, sandra loskarn, andre reis, beate winner, dieter chichung lie, a novel human stem cell model for coffinsiris syndromelike syndrome reveals the importance of sox11 dosage for neuronal differentiation and survival, human molecular genetics, volume 28, issue 15, 1 august 2019, pages 25892599. This is because most people with arid1b syndrome were first diagnosed with a different disorder coffinsiris syndrome, or css and this may have somewhat different effects to arid1b syndrome.
548 404 813 1249 1206 467 22 155 1223 373 1344 1421 887 1175 93 1105 62 269 1596 548 448 617 1189 451 1414 275 980 1256 385 16 985 741 1186