The Coffin-Siris syndrome

Abstract

Four additional cases of the Coffin-Siris syndrome bring the number of reported cases to 16. 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. Feeding difficulties and respiratory problems are common in infancy. Absence or hypoplasia of the distal and middle phalanges, especially those of the fifth finger and toes and retarded bone maturation are the most common radiological features.

Onychodystrophy with Multiple Epiphyseal Dysplasia: Literature Review

“…The nails are short and start off thin but later become thickened and difficult to cut [6]. Coffin-Siris Syndrome is a disorder in which patients present with growth retardation, microcephaly, coarse facies, sparse scalp hair, lax joints, and anonychia or nail hypoplasia, usually in the fifth fingers and toes [7]. Nail-Patella syndrome is due to mutations in the LMX1B gene, encoding a LIM homeodomain transcription factor regulating collagen IV expression and limb dorsoventral formation.…”

“…In 1951, several cases of brachydactyly were described in association with anonychia or nail hypoplasia [6]. In 1968, a syndrome of familial nail dysplasia and brachydactyly due to absent middle phalanges of the fingers and toes was documented [7]. In 1986, there was a case report of an 82-year-old woman with brachydactyly of the 3rd and 4th fingers with nail hypoplasia [9].…”

“…Nail-Patella syndrome is due to mutations in the LMX1B gene, encoding a LIM homeodomain transcription factor regulating collagen IV expression and limb dorsoventral formation. These patients present with a small or absent patella and dysplastic nails or anonychia [7,8]. Congenital brachydactyly is defined as finger or toe shortening.…”

Treatment of psychiatric comorbidities and interaction patterns in Coffin‐Siris syndrome: A case report of a 4‐year‐old girl

“…Up to now, around 200 cases have been described. Main characteristic features are hypoplasia or aplasia of the nail or the distal phalanx of the pinkie finger (“fifth‐digit syndrome”), coarse facial features, and moderate‐to‐severe intellectual disability 5‐9 . Characteristic features of the face are thick eyebrows, long eyelashes, broad bridge of the nose, wide mouth with thick, everted upper and lower lip, and abnormal position or shape of the ears 3,4,9 .…”

“…Main characteristic features are hypoplasia or aplasia of the nail or the distal phalanx of the pinkie finger ("fifth-digit syndrome"), coarse facial features, and moderate-to-severe intellectual disability. [5][6][7][8][9] Characteristic features of the face are thick eyebrows, long eyelashes, broad bridge of the nose, wide mouth with thick, everted upper and lower lip, and abnormal position or shape of the ears. 3,4,9 Common anomalies include failure to thrive, feeding problems, short stature, microcephaly, ocular symptoms (cataract, ptosis, strabismus), cardiac anomalies, hypertrichosis (arms, face, back), and sparse scalp hair.…”