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Rhabdoid Tumor Predisposition Syndrome
Published in Dongyou Liu, Handbook of Tumor Syndromes, 2020
Furthermore, mutations in the SMARCB1 gene are implicated in a severe form of Coffin−Siris syndrome (known alternatively as fifth digit syndrome), which is a congenital multiple malformation disorder inherited in an autosomal dominant pattern and characterized by intellectual disability, coarse facial features, hypertrichosis, and hypoplastic or absent fifth digit nails or phalanges, in addition to malformations of the cardiac, gastrointestinal, genitourinary, and/or central nervous systems; sucking/feeding difficulties, poor growth, ophthalmologic abnormalities, hearing impairment, and spinal anomalies.
Individual conditions grouped according to the international nosology and classification of genetic skeletal disorders*
Published in Christine M Hall, Amaka C Offiah, Francesca Forzano, Mario Lituania, Michelle Fink, Deborah Krakow, Fetal and Perinatal Skeletal Dysplasias, 2012
Christine M Hall, Amaka C Offiah, Francesca Forzano, Mario Lituania, Michelle Fink, Deborah Krakow
ATR-X: X-linked disorders, only males are affected with short stature, microcephaly, specific dysmorphic features (flat face, hypertelorism, epicanthic folds, depressed nasal bridge, macrostomia, small teeth, V-shaped upper lip), cryptorchidism, seizures. Haemoglobin H can be found in red blood cells. Coffin-Siris syndrome: rare recessive disorder characterised by microcephaly, coarse facial features, sparse scalp hair, hirsutism, microstomia, growth impairment, early feeding problems. Skeletal anomalies are not usually associated, except for fifth finger anomalies in hands and feet (from absent nails to absent digit). KBG: very rare, dominant disorder, with macrodontia of the upper central incisors, skeletal anomalies, namely block vertebrae, abnormal ribs, short femoral necks, broad and small hands. Partial duplication 3q: postnatal growth retardation, hirsutism, synophrys, low frontal hairline, microcephaly, cryptorchidism. Major malformations are very rare. Diagnosis is made through standard karyotyping.
Principles of Clinical Diagnosis
Published in Susan Bayliss Mallory, Alanna Bree, Peggy Chern, Illustrated Manual of Pediatric Dermatology, 2005
Susan Bayliss Mallory, Alanna Bree, Peggy Chern
Anonychia Absence of nail from birth; associated with nail patella syndrome, ectodermal dysplasias, maternal hydantoin ingestion, Coffin–Siris syndrome and others
Ophthalmologic and facial abnormalities of Nicolaides-Baraitser syndrome
Published in Ophthalmic Genetics, 2022
Russell Simmers, Allison Goodwin, Hind Al Saif, Natario Couser
Coffin-Siris Syndrome sequencing and deletion/duplication analysis performed via GeneDx revealed a heterozygous missense c.3485 G>A p.Arg1162His variant in the SMARCA2 gene. This p.Arg1162His missense variant has been associated with other individuals with NCBRS reported in the literature (1). In-silico analysis of this variant supports a deleterious effect; thus, this variant was interpreted as pathogenic in our patient.