delays and absent fifth finger and toe nails. [en.wikipedia.org]

delay. 61 24 Malli T...Webersinke G 25250687 2014 46 Numerous BAF complex genes are mutated in Coffin-Siris syndrome. 61 24 Miyake N...Matsumoto N 25081545 2014 47 Coffin-Siris syndrome and related disorders involving components of the BAF (mSWI/SNF) [malacards.org]

Some of the characteristics of CSS that Julia had include global developmental delays, delayed milestones, intellectual disability, a shortened pinky finger and/or toe nail, and hypotonia (low tone). [chop.edu]

Developmental delay and scoliosis appear in infancy and childhood. [orpha.net]

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]

24 56 6 Hoyer J...Reis A 22405089 2012 6 The HHID syndrome of hypertrichosis, hyperkeratosis, abnormal corpus callosum, intellectual disability, and minor anomalies is caused by mutations in ARID1B. 56 6 Zweier M...Rauch A 28323383 2017 7 De novo SOX11 [malacards.org]

"Extending the clinical and genetic spectrum of ARID2 related intellectual disability. A case series of 7 patients" (PDF). European Journal of Medical Genetics. 62 (1): 27–34. doi:10.1016/j.ejmg.2018.04.014. PMID 29698805. [en.wikipedia.org]

Most affected individuals have mild to severe intellectual disability or delayed development of speech and motor skills such as sitting and walking. [ghr.nlm.nih.gov]

CSS is not progressive, so her conditions will not get worse, but because of her intellectual disabilities she most likely will not be able to drive a car or live on her own. [chop.edu]

Clin Genet 2012; 82: 248–255. 12 Hoyer J, Ekici AB, Endele S et al: Haploinsufficiency of ARID1B, a member of the SWI/SNF-a chromatin-remodeling complex, is a frequent cause of intellectual disability. [nature.com]

facial features, including wide nose, wide mouth, and thick eyebrows and lashes Causes[edit] Autosomal dominant inheritance is the most likely, usually by de novo mutation. [en.wikipedia.org]

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]

Characteristic major features include mild to severe developmental or cognitive delay (in all patients), fifth finger nail/distal phalanx hypoplasia or aplasia (almost all patients at birth), and coarse facial features (commonly observed over time). [orpha.net]

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]

Signs & Symptoms CSS is characterized by distinctive abnormalities of the head and facial (craniofacial) region with affected individuals often described as having coarse facial features that become more prominent with age. [rarediseases.org]

[…] around 80.[2] The differential includes Nicolaides–Baraitser syndrome.[3] Presentation[edit] mild to severe intellectual disability,[4][5] also called "developmental disability"[6] short fifth digits with hypoplastic or absent nails low birth weight feeding [en.wikipedia.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]

Common minor findings include short stature, failure to thrive, feeding difficulties, microcephaly, ophthalmological manifestations (cataracts, ptosis, strabismus), cardiac anomalies (ventricular septal/atrial septal defects, tetralogy of Fallot, patent [orpha.net]

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]

Coffin–Siris syndrome Other names Dwarfism-Onychodysplasia, Fifth Digit Syndrome, Mental Retardation with Hypoplastic 5th Fingernails and Toenails, Short Stature-Onychodysplasia Coffin–Siris syndrome is inherited in an autosomal dominant manner Coffin–Siris [en.wikipedia.org]

Other signs and symptoms that may occur in people with this condition include short stature, low muscle tone (hypotonia), and abnormally loose (lax) joints. Abnormalities of the eyes, brain, heart, and kidneys may also be present. [ghr.nlm.nih.gov]

Common minor findings include short stature, failure to thrive, feeding difficulties, microcephaly, ophthalmological manifestations (cataracts, ptosis, strabismus), cardiac anomalies (ventricular septal/atrial septal defects, tetralogy of Fallot, patent [orpha.net]

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]

"Coffin-Siris Syndrome with obesity, macrocephaly, hepatomegaly and hyperinsulinism caused by a mutation in the ARID1B gene". European Journal of Human Genetics. 22 (11): 1327–9. doi:10.1038/ejhg.2014.25. PMC 4200437. PMID 24569609. [en.wikipedia.org]

However, unlike other patients described, she has extreme macrocephaly, obesity with hepatomegaly, PCOS, hyperinsulinism and metabolic syndrome. [nature.com]

"Coffin-Siris Syndrome with obesity, macrocephaly, hepatomegaly and hyperinsulinism caused by a mutation in the ARID1B gene". European Journal of Human Genetics. 22 (11): 1327–9. doi:10.1038/ejhg.2014.25. PMC 4200437. PMID 24569609. [en.wikipedia.org]

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]

In addition, people with this condition may have an abnormally small head (microcephaly). [ghr.nlm.nih.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]

abnormal corpus callosum, intellectual disability, and minor anomalies is caused by mutations in ARID1B. 56 6 Zweier M...Rauch A 28323383 2017 7 De novo SOX11 mutations cause Coffin-Siris syndrome. 61 24 6 Tsurusaki Y...Matsumoto N 24886874 2014 8 Hypertrichosis [malacards.org]

[…] include short stature, failure to thrive, feeding difficulties, microcephaly, ophthalmological manifestations (cataracts, ptosis, strabismus), cardiac anomalies (ventricular septal/atrial septal defects, tetralogy of Fallot, patent ductus arteriosus), hypertrichosis [orpha.net]

Hypertrichosis was described in 94% of patients. None of the other described patients have hyperinsulinism, PCOS or metabolic syndrome. [nature.com]

The hair is usually thin; on the body, however, especially on the face, hypertrichosis may be observed. [ispub.com]

Additional features may include thick eyebrows, long eyelashes, and generalized excessive hair growth (hypertrichosis) with the exception of the scalp hair, which tends to be relatively sparse (scalp hypotrichosis). [rarediseases.org]

nails low birth weight feeding difficulties upon birth frequent respiratory infections during infancy hypotonia joint laxity delayed bone age microcephaly coarse facial features, including wide nose, wide mouth, and thick eyebrows and lashes Causes[edit [en.wikipedia.org]

The first description of the syndrome was published by Coffin and Siris in 1970; they described 3 girls with mental retardation, absent nails of the fifth fingers and hypoplastic distal phalanges [1]. [ispub.com]

In addition, affected infants and children may have short fifth fingers ("pinkies") and toes with underdeveloped (hypoplastic) or absent nails; other malformations of the fingers and toes; and eye abnormalities. [rarediseases.org]

Wieczorek D...Wollnik B 23906836 2013 5 Haploinsufficiency of ARID1B, a member of the SWI/SNF-a chromatin-remodeling complex, is a frequent cause of intellectual disability. 24 56 6 Hoyer J...Reis A 22405089 2012 6 The HHID syndrome of hypertrichosis, hyperkeratosis [malacards.org]

Distinctive facial features include thick eyebrows and long eyelashes, broad nasal bridge, wide mouth with thick, everted upper and lower lips, and abnormal ear position or shape. [orpha.net]

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]

Neuropathologic findings. 61 56 DeBassio WA...Knoefel JE 3985811 1985 34 Lapsus--caveat emptor: Coffin-Lowry syndrome vs Coffin-Siris syndrome--an example of confusion compounded. 61 56 Gorlin RJ 7294058 1981 35 The Coffin-Siris syndrome: five new cases [malacards.org]

Some of the characteristics of CSS that Julia had include global developmental delays, delayed milestones, intellectual disability, a shortened pinky finger and/or toe nail, and hypotonia (low tone). [chop.edu]

bone age microcephaly coarse facial features, including wide nose, wide mouth, and thick eyebrows and lashes Causes[edit] Autosomal dominant inheritance is the most likely, usually by de novo mutation. [en.wikipedia.org]

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]