Cardinal features are intellectual disability, coarse facial features, hypertrichosis, and hypoplastic or absent fifth digit nails or phalanges. However, no treatment can completely cure the coffin siris syndrome. Review and presentation of new cases from a questionnaire study. A collection of disease information resources and questions answered by our genetic and rare diseases information specialists for coffinsiris syndrome. Characteristic features include eyebrow hypertrichosis, long eyelashes, flat nasal. One additional feature, aplasia of the uterus, eventually may be added to the syndrome that we have already described. 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 css, mim 5900 is a rare genetic disorder. His 3yearold sister had markedly hypoplastic toenails. Request pdf coffin siris syndrome a 9monthold boy with coffin siris syndrome is described. The coffinsiris syndrome jama pediatrics jama network. Little is known about the early neurobehavioral presentation of cs. In some cases, no genetic mutation can be identified and the cause of coffinsiris syndrome in the family remains unknown. Inflammatory arthritis as a possible feature of coffin.
So, we dont have sufficient elements to formulate a diagnosis of coffin siris syndrome but we can speculate that a less severe variant of this entity has occurred in our patient. Feeding difficulties frequent respiratory infections during infancy diminished muscle tone hypotonia abnormal. 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. This latter feature would become a key cue for considering the. Arid1b mutations have been identified as the predominant cause of coffin siris syndrome and have also been shown to be a frequent cause of nonsyndromic intellectual disability. Here, we investigate the molecular basis of a patient with an overlapping but distinctive phenotype of intellectual disability, plantar fat pads and facial dysmorphism.
A form of coffinsiris syndrome, a congenital multiple malformation syndrome with broad phenotypic and genetic variability. To avoid confusion with the coffin siris wegienka syndrome, it was decided to name the latter syndrome coffin lowry syndrome after robert brian lowry, a british medical geneticist, who described a fourth family with the findings. Coffinsiris syndrome is an autosomal dominant condition. A 4yearold boy was severely microcephalic but lacked any nail abnormalities. Difficult airway in a patient with coffinsiris syndrome. Coffin siris syndrome is a rare genetic disorder that causes developmental delays and absent fifth finger and toe nails. 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. Pdf coffin siris syndrome is very rare genetic syndrome. Three mutations affected splicing, 1 resulted in frameshift, 1 caused a premature termination codon, 7 were missense, and 1 was an inframe single amino acid deletion.
See the articles of incorporation, certificate of incorporation, and 501c3 acceptance letter. Coffin siris syndrome css is a rare congenital malformation syndrome, recently found to be caused by mutations in several genes encoding components of the baf complex. Diets and colleagues, in their recent work, have described four cases of missense mutation in exon 2, resulting in the substitution of arginine with histidine. Coffin siris syndrome is a rare genetic disorder, also known as fifth digit syndrome. If you have problems viewing pdf files, download the latest version of adobe reader. Coffin, an american pediatrician, and evelyn siris, an american radiologist, in 1970. Coffin siris syndrome css or fifth digit syndrome was first described by coffin and siris in 1970. The original three probands showed coarse facial features, sparsescalphair,andnotably,hypoplasiaof the fifth digit phalangesnails coffin and siris, 1970. It is incorporated as a nonprofit and allvolunteer run. Coffinsiris syndrome css is a rare genetic disorder that may be evident at birth. In 4 unrelated patients with coffin siris syndrome css6. The number of occurrences since then has grown and is now reported to be around 80.
Although this inherited condition is extremely rare, anesthesiologists should be aware of its existence and. Biochemical analyses showed hyperinsulinaemia fasting insulin level 42. It is a multiple congenital anomalymental retardation syndrome mcamr for which fleck et al. During the past two years we have seen three cases suggestive of this condition. Coffinsiris syndrome is a condition that affects several body systems. In 15 patients with coffin siris syndrome, machol et al. Four additional cases of the coffin siris syndrome bring the number of reported cases to 16. Smarcb1 12%, smarca4 11%, smarce1 2%, arid1a 7%, arid1b 65%, and phf6 2%. My affected gene is smarca4 but there are 10 known genes that can be affected to cause css. Coffin siris syndrome nord national organization for.
Most affected individuals have mild to severe intellectual disability. To date, 109 patients have been reported with their mutations. Expanding the phenotypic spectrum of arid1b mediated. Autosomal recessive mode of inheritance of a coffin siris like syndrome. Recently, it has been reported that mutations in genes encoding subunits of the swisnf complex cause this disease.
Proposed minimal criteria for the clinical diagnosis of css are developmental or cognitive delay, which may range from mild to. Choanal atresia in two unrelated patients with the coffin siris syndrome. In 1970 coffin and siris described three unrelated female children. Coffinsiris syndrome css is a rare, clinically heterogeneous disorder often considered in the setting of cognitivedevelopmental delay and. Coffinsiris syndrome css is a rare congenital anomaly syndrome characterized by growth deficiency, severe intellectual disability, microcephaly, coarse facial features and hypoplastic nail of the fifth finger andor toe. Emilys life with coffin siris syndrome home facebook. Coffin siris syndrome nord national organization for rare.
Coffinsiris syndrome, also known as dwarfismonychodysplasia fifth digit syndrome mental retardation with hypoplastic 5th fingernails and toenails short statureonychodysplasia the following features are commonly seen in infants and children with coffinsiris syndrome. Simple schwannomatosis or an incomplete coffinsiris. 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. In this syndrome, the most frequent findings include. The differential includes nicolaides baraitser syndrome. Musculoskeletal changes such as noninflammatory prominence of interphalangeal joints in hands, feet, and, to a lesser extent, knee. Of our 2018 expenses, 96% was spent on the conference. My name is naomi, i am 20 years old and i have coffin siris syndrome. The treatment of the coffin siris syndrome in children may vary depending on the different symptoms present in the patient.
Analysis of functioning in a 12yearold boy with coffin. Coffinsiris syndrome genetic and rare diseases information. Clinical features, diagnostic criteria, and management of. For language access assistance, contact the ncats public information officer. See the articles of incorporation, certificate of incorporation, and 501 c3 acceptance letter. Coffin siris syndrome css is a congenital disorder characterized by growth deficiency, intellectual disability, microcephaly, characteristic facial features and hypoplastic nails of the fifth. Coffinsiris syndrome ontology browser rat genome database. Speechlanguage profile of a child with coffinsiris syndrome.
Coffin siris syndrome foundation was started in 2017 by a group of parents of kids with css. Coffinsiris syndrome and the otherfeatures have to. Is this the coffin siris syndrome or the bod syndrome. The authors characterized the cognitive, adaptive, and behavioral sequelae of coffin siris cs syndrome and epilepsy in a 7. Cognitive and behavioral functioning in coffinsiris. Genetic abnormalities in a large cohort of coffinsiris. We report a white female infant with typical features of coffinsiris syndrome including thick eyebrows, flat nasal bridge, anteverted, wide nose tip, generalised hypertrichosis, scalp hypotrichosis, absence of the fifth fingernails and toenails, absence of the distal phalanges of the fifth fingers and of the second to fifth toes, small patellae, inguinal hernia, and sucking and feeding. If you have problems viewing pdf files, download the latest version of adobe. During the 1970s, there were reported patients with coffin siris syndrome including three. I am part of a facebook group with over members so please come find us for help and. Is this the coffinsiris syndrome or the bod syndrome. Auditory brain stem response recording suggested bilaterally normal hearing. Mental retardation with absent fifth fingernail and terminal phalanx. The coffinsiris syndrome journal of medical genetics.
Introduction coffin siris syndrome css is a rare, clinically heterogeneous disorder considered in the setting of prenatal onset of mild to moderate growth deficiency, facial dysmorphism, cognitivedevelopmental delay, and speech impairment, moderate to severe hypotonia, seizures and 5th fingernail hypoplasia. 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. Coffinsiris syndrome css is a rare congenital multisystemic genetic disorder characterized by aplasia or hypoplasia of the distal phalanx or nail of the fifth. Coffinsiris syndrome with obesity, macrocephaly, hepatomegaly. It usually occurs for the first time in a family due to a new mutation. 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 disability, coarse facial features, hypotonia. Pdf coffinsiris syndrome css is a rare, clinically heterogeneous disorder considered in the setting of prenatal.
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