We report the case of an unusual association of coffinsiris syndrome with mayerrokitanskykusterhauser syndrome. Coffinsiris syndrome with mayerrokitanskykusterhauser. Bender ha1, zaroff cm, karantzoulis s, nakhutina l, macallister ws, luciano d. The child had distinctive features of css like developmental delay, seizures, and coarse facial. Introduction coffinsiris 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. Coffin siris syndrome nord national organization for rare. Pdf speechlanguage profile of a child with coffinsiris. All of the coffinsiris logos created by the foundation are provided here under the creative commons byncsa 4. Coffinsiris syndrome is a rare genetic condition that affects a number of body systems. In 1970 coffin and siris described three unrelated. Coffinsiris syndrome css, mim 5900 is a rare genetic disorder, and mutations in arid1b were recently shown to cause css. Pdf coffinsiris syndrome in two sisters in nepal researchgate.
This analysis is performed by next generation sequencing ngs and is designed to examine coding regions and splicing junctions. Difficult airway in a patient with coffinsiris syndrome. Coffin siris syndrome forum questions about coffin siris syndrome ask a question and get answers from other users. Coffinsiris syndrome is a rare congenital disorder that affects more females than males. The coffin siris synthesis symptom is the rare gene abnormality. Two additional cases of a recently delineated pattern of malformation, the coffinsiris syndrome, bring the number of reported cases to six. The disorder may be characterized by abnormalities of the head and facial craniofacial area, resulting in a coarse facial appearance.
Craniofacial malformations may include an abnormally small head microcephaly. There was decreased fetal activity and intrauterine growth retardation. Coffinsiris syndrome with obesity, macrocephaly, hepatomegaly and hyperinsulinism caused by a mutation in the arid1b gene. A syndrome ofsevere retardation of postnatal growth, mental retardation, lax joints. To avoid confusion with the coffin siris wegienka syndrome, it was decided to name the latter syndrome coffinlowry syndrome after robert brian lowry, a british medical geneticist, who described a fourth family with the findings. Coffinsiris syndrome is an autosomal dominant condition. Coffinsiris syndrome css, mim 5900 is a rare genetic disorder. Siris syndrome and related disorders involving components of the. The potential for a difficult airway caused by a short neck, large tongue and lips, and poor dentition should always be considered. Arid1a, arid1b, phf6, smarca2, smarca4, smarcb1, smarce1, sox11 disorders. 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. When considering symptoms of coffinsiris syndrome, it is also important to consider coffinsiris syndrome as a possible cause of other medical conditions.
Coffinsinssyndrome case 1 described by carey and hall2 and that of uedaet a did not have bushy eyebrows, only long eyelashes. His 3yearold sister had markedly hypoplastic toenails. Description coffinsiris syndrome is a rare congenital disorder characterized by delayed psychomotor development, intellectual disability, coarse facial features. Coffinsiris syndrome is listed as a rare disease by the office of rare diseases ord of the national institutes of health nih. The differential includes nicolaidesbaraitser syndrome. Coffinsiris syndrome genetic and rare diseases information. Treatment is essentially supportive and symptomatic. Based on the mutations responsible for the disorder, six types of coffinsiris syndrome. The two mentally retarded girls were the first and the third born in this family. Chkds coffinsiris syndrome program the only one of its kind in the united states is designed to evaluate, recommend treatment, and manage patients that have one of the rarest multiplecongenital anomaly syndromes. Coffinsiris syndrome is a rare genetic disorder that causes developmental delays and absent fifth finger and toe nails. Coffinsiris syndrome or fifth digit syndrome is a multiple congenital anomalymental retardation syndrome with severe developmental delay, coarse facial features, hirsutism and absent fifth fingernails or toenails or fifth distal phalanges. New research on coffinsiris syndrome may lead to understanding neuropsychiatric disorders.
This means that coffinsiris syndrome, or a subtype of coffinsiris syndrome, affects less than 200,000 people in the us population. Equipment for managing the difficult airway should be readily available. They received his css diagnosis when caleb was three. A collection of disease information resources and questions answered by our genetic and rare diseases information specialists for coffinsiris syndrome.
Home test catalog by test az coffinsiris syndrome coffinsiris syndrome forms and documents. Cognitive and behavioral functioning in coffinsiris. Cognitive and behavioral functioning in coffinsiris syndrome and epilepsy. Coffinsiris syndrome foundation was established in hopes to connect families affected by coffinsiris syndrome and related disorders. A 4yearold boy was severely microcephalic but lacked any nail abnormalities. Although this inherited condition is extremely rare, anesthesiologists should be aware of its existence and prepare for potential airway management problems whenever it is encountered. More than 150 cases of genetically confirmed coffinsiris syndrome css have been clinically reported.
The disorder may be characterized by abnormalities of the head and facial. Coffin, an american pediatrician, and evelyn siris, an american radiologist, in 1970. Coffinsiris syndrome css is a rare genetic disorder that may be evident at. A nineyearold indian girl was referred to our hospital for growth retardation, mental retardation, lax joints, generalized hypertrichosis, and hypoplastic fifth fingernails and toenails. Coffinsiris syndrome as a cause of symptoms or medical conditions. Coffinsiris syndrome css is a rare congenital multisystemic genetic disorder characterized by aplasia or hypoplasia of the distal phalanx or. The number of occurrences since then has grown and is now reported to be. Among the range of symptoms that characterize it are developmental disability, physical abnormalities of the pinky toes and fingers, as well as a distinctive, coarse facial features, among others. Css1 to ensure longterm funding for the omim project, we have diversified our revenue stream. Get a printable copy pdf file of the complete article 761k. Franceschini p, cirillo silengo m, bianco r, biagioli m, guala a, lopez bell g. 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.
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. Use it, share it, remix it, give credit, dont sell it. Mutations in the bafcomplex subunit dpf2 are associated. A mouse model of the genetic mutation that causes coffinsiris syndrome may shed light.
Pdf coffinsiris syndrome css has the characteristic feature of brachydactyly of the fifth digit of hands and feet. During the past two years we have seen three cases suggestive of this condition. Coffinsiris syndrome is a condition that affects several body systems. Coffinsiris syndrome css is a rare genetic disorder that may be evident at birth congenital. The coffinsiris syndrome journal of medical genetics. The treatment of the coffin siris syndrome in children may vary depending on the different symptoms present in the patient. Coffinsiris syndrome is a rare genetic abnormality with undetermined pattern of inheritance. Individuals with this syndrome have some degree of mental retardation or developmental delay, a coarse facial appearance, incompletely formed or absent fifth fingernails, and absent fifth fingers distal phalanges. Coffinsiris syndrome with obesity, macrocephaly, hepatomegaly. Proposed minimal criteria for the clinical diagnosis of css are. This association has never previously been reported in the medical literature. Report of a family wiley online library with other mental retardation syndromes, mainly the coffinlowry syndrome. Pdf coffinsiris syndrome css is a rare, clinically heterogeneous disorder considered in the. Perhaps chaotic for feeds the description difficult and the frequent breath infection in the initial period, the muscle which reduces is been anxious hypotonia, the unusual looseness laxity joins.
Four additional cases of the coffinsiris syndrome bring the number of reported cases to 16. The number of occurrences since then has grown and is now reported to be around 80. However, no treatment can completely cure the coffin siris syndrome. Treatment is directed towards the symptoms that are present in an individual with css. Furthermore they did not have coarse features and the case of ueda et al3did not have sparse scalp hair or bodyhirsutism. In some cases, no genetic mutation can be identified and the cause of coffinsiris syndrome in the family remains unknown. Pdf coffinsiris syndrome with obesity, macrocephaly. In conclusion, coffinsiris syndrome is a rare congenital syndrome with characteristic facial features that may lead to difficult intubation. Coffinsiris syndrome ontology browser rat genome database. Occupational, physical, andor speech therapies to optimize developmental outcomes. Auditory brain stem response recording suggested bilaterally normal hearing. The features of the disorder variably include growth and mental deficiency. 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, microcephaly, sacral.
Coffinsiris syndrome css is a congenital disorder characterized by growth deficiency, intellectual disability, microcephaly, characteristic facial features and hypoplastic nails of the fifth. The disease database lists the following medical conditions that coffinsiris syndrome may cause. It usually occurs for the first time in a family due to a new mutation. The cause of this disorder is unknown, and the severity.