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Coffin-Siris syndrome

Mental retardation with absent fifth fingernail and terminal phalanx
Also Known As:
Fifth digit syndrome
Networked: 42 relevant articles (0 outcomes, 2 trials/studies)

Bio-Agent Context: Research Results

Experts

1. Matsumoto, Naomichi: 3 articles (09/2014 - 06/2013)
2. Tsurusaki, Yoshinori: 3 articles (09/2014 - 06/2013)
3. Miyake, Noriko: 3 articles (09/2014 - 06/2013)
4. Wieczorek, Dagmar: 2 articles (06/2015 - 09/2014)
5. Isidor, B: 2 articles (06/2014 - 02/2014)
6. Ohashi, Hirofumi: 2 articles (01/2014 - 06/2013)
7. Saitsu, Hirotomo: 2 articles (01/2014 - 06/2013)
8. Miyatake, Satoko: 2 articles (01/2014 - 06/2013)
9. Vulto-van Silfhout, Anneke T: 2 articles (01/2014 - 11/2013)
10. Okamoto, Nobuhiko: 2 articles (01/2014 - 06/2013)

Related Diseases

1. Hypertrichosis
01/01/2014 - "This study broadens the spectrum of ARID1B associated phenotypes by describing a distinctive phenotype including plantar fat pads but lacking the hypertrichosis or fifth nail hypoplasia associated with Coffin-Siris syndrome. "
10/01/1996 - "Coffin-Siris syndrome is characterized by nail hypoplasia of the fingers and toes, eyebrow hypertrichosis, prominent lips and prenatal or postnatal growth retardation. "
09/01/2014 - "Coffin-Siris syndrome (CSS; OMIM#135900) is a rare congenital anomaly syndrome characterized by intellectual disability, coarse face, hypertrichosis, and absence/hypoplasia of the fifth digits' nails. "
05/01/1990 - "We report a white female infant with typical features of Coffin-Siris 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 difficulties. "
01/01/2009 - "We report the case of an 8-year-old boy with the phenotypic features of Coffin-Siris syndrome diffuse hypertrichosis, flat occiput, scant scalp hair, flat supraorbital arch, triangular eyebrows, horizontal palpebral fissure, anteverted nares, triangular philtrum, coarse lips, high-arched palate, micrognathia, low set and dorsaly rotated ears, short neck, wide thorax, widely set nipples, transverse palmar crease, psychomotor delay, urinary malformations (paraurethral diverticulum, hypoplasia of left kidney associated with vesicoureteral reflux grade 3-4), bilateral inguinal hernia, and dorsolumbar kyphoscoliosis. "
2. Neurocutaneous Syndromes (Phakomatoses)
3. Mental Retardation (Idiocy)
4. Hirsutism
5. Facies

Related Drugs and Biologics

1. Nicolaides Baraitser syndrome
2. Sucrose (Saccharose)
3. RNA (Ribonucleic Acid)
4. Dandy Walker variant
5. Lennox-Gastaut type Epileptic encephalopathy
6. cohesins (cohesin)

Related Therapies and Procedures

1. Epidural Analgesia
2. Mechanical Ventilators (Ventilator)
3. General Anesthesia