In the presented case both of these symptoms, infections and feeding problems were present. [ispub.com]

Hypoplastic fifth toenails were present in all patients. Permission has been obtained from the patient’s parents and mother (3) herself for presentation. [nature.com]

Acronym CSS9 Synonyms Mental retardation, autosomal dominant 27 MRD27 Keywords Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. [uniprot.org]

Treatment Since this disease has such a variety of symptoms, treatment depends on the specific presentation in the individual. [verywellhealth.com]

• Short Stature

  Other Names for This Condition Dwarfism-onychodysplasia Fifth digit syndrome Mental retardation with hypoplastic fifth fingernails and toenails Short stature-onychodysplasia References Euskirchen G, Auerbach RK, Snyder M. [medlineplus.gov]

  Individuals are typically small for gestational age and have postnatal short stature and severe microcephaly, complex congenital heart defects and feeding difficulties. [fdna.health]

  stature, and dysmorphic features. 61 6 Smith JA...Lyons MJ 27570168 2016 20 Clinical features, diagnostic criteria, and management of Coffin-Siris syndrome. 61 57 Vergano SS...Deardorff MA 25169447 2014 21 Coffin-Siris Syndrome 6 61 Schrier Vergano S [malacards.org]

  Short Stature: Those with the condition are often shorter in height. Low Muscle Tone: Coffin-Siris syndrome is also associated with “hypotonia,” or under-developed musculature. [verywellhealth.com]

  Forty-nine percent were short statured (<2 SD), including our case, but many other described patients had a tendency toward shorter height than expected according to the age, although within normal limits. [nature.com]

• Feeding Difficulties

  Sucking/feeding difficulties, poor growth, ophthalmologic abnormalities, hearing impairment, and spinal anomalies are common findings. [uniprot.org]

  Also typical, mostly in infancy and childhood, are feeding difficulties. In the presented case both of these symptoms, infections and feeding problems were present. [ispub.com]

  Individuals are typically small for gestational age and have postnatal short stature and severe microcephaly, complex congenital heart defects and feeding difficulties. [fdna.health]

  If needed, the placement of a gastrostomy tube (a tube inserted through the abdomen to deliver nutrition directly to the stomach) can help with feeding difficulties. [rarediseases.org]

  Feeding Difficulty: In infancy, feeding can become very difficult. Failure to Thrive: Related to the above, infants and toddlers may not gain weight or grow properly during important junctures. [verywellhealth.com]

• Developmental Disabilities

  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. [verywellhealth.com]

  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. [medlineplus.gov]

• Poor Growth

  Sucking/feeding difficulties, poor growth, ophthalmologic abnormalities, hearing impairment, and spinal anomalies are common findings. [uniprot.org]

• Epilepsy

  Bicknell LS 31207137 2019 47 Complex structural variants in Mendelian disorders: identification and breakpoint resolution using short- and long-read genome sequencing. 6 Sanchis-Juan A...Carss KJ 30526634 2018 48 Diagnostic exome sequencing of syndromic epilepsy [malacards.org]

• Failure to Thrive

  Failure to Thrive: Related to the above, infants and toddlers may not gain weight or grow properly during important junctures. Short Stature: Those with the condition are often shorter in height. [verywellhealth.com]

  Additionally, some infants and children with Coffin-Siris syndrome have frequent respiratory infections, difficulty feeding, and an inability to gain weight at the expected rate (failure to thrive). [medlineplus.gov]

  Early in life, infants with CSS typically experience feeding difficulties, vomiting, slow growth and weight gain (failure to thrive) which may have begun while the infant was still in the womb (intrauterine growth retardation), and frequent respiratory [rarediseases.org]

• Feeding Problems in Infancy

  These patients tend to have feeding problems in infancy and frequent respiratory infections. The disorder has been a sporadic one in each family. No chromosomal abnormality has been detected, and the cause remains undetermined. [jamanetwork.com]

• Hepatomegaly

  Coffin–Siris Syndrome with obesity, macrocephaly, hepatomegaly and hyperinsulinism caused by a mutation in the ARID1B gene. [nature.com]

• Macrocephaly

  This condition, besides macrocephaly, may present: coarse facial features with wide mouth, developmental delay with seizures, umbilical hernia and nail hypoplasia as features. [ispub.com]

  Our patient has significant macrocephaly (+5 SD) and Arnold–Chiari malformation type I. Moreover, the macrocephaly in our patient was progressive, which is a very unusual feature and has not been described before. [nature.com]

  Craniofacial malformations may include an abnormally small head (microcephaly) or large head (macrocephaly); a wide nose with a low nasal bridge; a wide mouth with thick, prominent lips; thick eyebrows and eyelashes or excess hair growth in unusual places [rarediseases.org]

• Small Head

  In addition, this condition sometimes leads to other issues: Small Head Size: Also known as microcephaly, a significant number of people with Coffin-Siris syndrome have a relatively smaller than average head. [verywellhealth.com]

  In addition, people with this condition may have an abnormally small head (microcephaly). [medlineplus.gov]

  Craniofacial malformations may include an abnormally small head (microcephaly) or large head (macrocephaly); a wide nose with a low nasal bridge; a wide mouth with thick, prominent lips; thick eyebrows and eyelashes or excess hair growth in unusual places [rarediseases.org]

• Short Fifth Finger

  Diagnosis CSS should be suspected in newborns with underdeveloped nails and short fifth fingers and distinctive facial features. The facial features may become more apparent as the child grows. [rarediseases.org]

• Hypoplastic Nails

  Here we describe a novel heterozygous missense SOX11 variant in two sisters and her mother presenting with ocular motor apraxia and hypoplastic nails of fifth toes. [nature.com]

  The features of the disorder variably include growth and mental deficiency; a coarse appearing facies with low nasal bridge, wide nose and/or mouth, and thick lips; hypoplastic nails, especially those of the fifth finger and toes; hirsutism and sparse [jamanetwork.com]

  Figure 3 Figure 3: Right hand: hypoplastic nail in fifth digit. Figure 4 Figure 4: Left hand: hypoplastic nail in fifth digit. [ispub.com]

• Sparse Hair

  Figure 1 Figure 1: Profile of the head: sparse hair, full cheeks, low set ear, up-turned nose. Figure 2 Figure 2: Face: flat nasal bridge with bulbous nasal tip. Figure 3 Figure 3: Right hand: hypoplastic nail in fifth digit. [ispub.com]

• Hearing Impairment

  Sucking/feeding difficulties, poor growth, ophthalmologic abnormalities, hearing impairment, and spinal anomalies are common findings. [uniprot.org]

  Visual and hearing impairment Impairment of hearing and/or vision is prevalent among CSS patients. [fdna.health]

• Thick Lips

  The features of the disorder variably include growth and mental deficiency; a coarse appearing facies with low nasal bridge, wide nose and/or mouth, and thick lips; hypoplastic nails, especially those of the fifth finger and toes; hirsutism and sparse [jamanetwork.com]

  Distinctive Facial Features: These include wide nose, thicker eyelashes and brows, thick lips, wider mouth, and flat nasal bridge. The eyes may also appear abnormal. [verywellhealth.com]

  These typically include a wide nose with a flat nasal bridge, a wide mouth with thick lips, and thick eyebrows and eyelashes. Affected individuals can have excess hair on other parts of the face and body (hirsutism), but scalp hair is often sparse. [medlineplus.gov]

  Dysmorphic features included short philtrum, thick lips, sunken eyes, and strabism (Fig. 1). Low-set ears were present. She had no hirsutism but sparse scalp hair. In addition, Cogan ocular motor apraxia was present. Brain MRI was normal. [nature.com]

  CSS-affected individuals present with varying degrees of ID, hypo- or aplasia of fifth finger- or toenails and distal phalanges, coarse facial features with a flat nasal bridge and a wide mouth with thick lips, hirsutism, and short stature [Fleck et al [karger.com]

• Broad Nasal Bridge

  The diagnosis was based on both typical dismorphic features of the face: coarse facial features, broad mouth, chubby cheeks, flat and broad nasal bridge, and absent/hypoplastic distal phalanges and the nails of the fifth fingers at both hands, which are [ispub.com]

  She had overall coarse facial features with long eyelashes and broad nasal bridge (Figure 1a), hepatomegaly (sagittal view 8.9 cm), autistic behavior and absent speech. Chromosomal analysis revealed a normal female karyotype (46, XX). [nature.com]

• Delayed Speech and Language Development

  speech and language development HP:0000750 Motor delay HP:0001270 CLINICAL DESCRIPTION (GENERAL): In general all CSS patients have developmental and speech delay and intellectual disability, developmental and speech delay, distinct facial features (see [fdna.health]

Clinical Testing and Workup If indicated, further examinations and specialized imaging techniques are recommended to establish the extent of the disorder. [rarediseases.org]

• Delayed Bone Age

  In many cases spinal abnormalities have been recognized: spina bifida, scoliosis, kyphosis and delayed bone age. Less frequently, there occur blepharoptosis or macroglossia. [ispub.com]

  In addition, affected infants and children may have hypotonia, abnormally loose joints, delayed bone age (2 to 3 years behind the chronological age), and mild to severe intellectual disability. [rarediseases.org]

It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. Our staff consists of biologists and biochemists that are not trained to give medical advice. [uniprot.org]

Standard Therapies Treatment The treatment of CSS is directed toward the specific features of each individual. [rarediseases.org]

Treatment Since this disease has such a variety of symptoms, treatment depends on the specific presentation in the individual. [verywellhealth.com]

MANAGEMENT AND TREATMENT: At time of diagnosis: - Consultation with a clinical geneticist and/or genetic counselor - Neurologic and/or developmental examination to record developmental milestones and identify neurologic symptoms or deficits - Evaluation [fdna.health]

As early treatment may improve the visual outcome of patients with glaucoma, we suggest that patients with Coffin-Siris syndrome should receive specific ophthalmological screening. [x-mol.com]

With the right medical team, prognosis can certainly improve and symptoms can be managed. As the medical establishment learns more about it—and especially as procedures like genetic testing become more advanced—the situation will only improve. [verywellhealth.com]

During infancy, treatment may also require measures to help prevent or aggressively treat respiratory infections. Early intervention may be important in ensuring that affected children reach their potential. [rarediseases.org]

La Vista, NE, USA), which stabilizes nucleated blood cells and prevents the release of genomic DNA. cfDNA was isolated using the QIAamp Circulating Nucleic Acid Kit (QIAGEN, Hilden, Germany). [karger.com]