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Genetic and Rare Diseases Information Center (GARD)

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Coffin-Siris syndrome


Other Names for this Disease

  • Fifth digit syndrome
  • Intellectual disability with absent fifth fingernail and terminal phalanx
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Symptoms

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What are the signs and symptoms of Coffin-Siris syndrome?

The signs and symptoms of Coffin-Siris syndrome vary. More commonly described symptoms include:[1]

Mild to severe intellectual disability
Mild to severe speech delay
Mild to severe delay in motor skills, such as sitting and walking
Underdeveloped fingertips or toes
Missing “pinky” fingernails or toenails
Distinctive facial features, such as a wide mouth, thick lips, thick eyelashes and brows, wide nose, and flat nasal bridge
Extra hair growth on the face and body
Sparse scalp hair

Other symptoms that have been described in infants and children with Coffin-Siris syndrome include:[1]

Small head size
Frequent respiratory infections in infancy
Feeding difficulty in infancy
Failure to thrive
Short stature
Low muscle tone
Loose joints
Eye abnormalities
Heart abnormalities
Brain abnormalities
Kidney abnormalities

Last updated: 10/7/2013

The Human Phenotype Ontology provides the following list of signs and symptoms for Coffin-Siris syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms.

Signs and Symptoms Approximate number of patients (when available)
Abnormality of the eyelashes 90%
Abnormality of the teeth 90%
Anonychia 90%
Coarse facial features 90%
Cognitive impairment 90%
Feeding difficulties in infancy 90%
Hypertrichosis 90%
Microcephaly 90%
Muscular hypotonia 90%
Short distal phalanx of finger 90%
Short stature 90%
Slow-growing hair 90%
Thick eyebrow 90%
Thick lower lip vermilion 90%
Aplasia/Hypoplasia of the cerebellum 50%
Cryptorchidism 50%
Dandy-Walker malformation 50%
Depressed nasal bridge 50%
Depressed nasal ridge 50%
Elbow dislocation 50%
Hearing impairment 50%
Intrauterine growth retardation 50%
Joint hypermobility 50%
Malformation of the heart and great vessels 50%
Nystagmus 50%
Patellar aplasia 50%
Recurrent respiratory infections 50%
Scoliosis 50%
Seizures 50%
Strabismus 50%
Wide mouth 50%
Abnormal localization of kidney 7.5%
Abnormality of the clavicles 7.5%
Abnormality of the hip bone 7.5%
Abnormality of the intervertebral disk 7.5%
Aplasia/Hypoplasia of the corpus callosum 7.5%
Aplastic/hypoplastic toenail 7.5%
Cataract 7.5%
Cleft palate 7.5%
Congenital diaphragmatic hernia 7.5%
Cutis marmorata 7.5%
Epicanthus 7.5%
Kyphosis 7.5%
Lacrimation abnormality 7.5%
Ptosis 7.5%
Renal hypoplasia/aplasia 7.5%
Short philtrum 7.5%
Single transverse palmar crease 7.5%
Spina bifida occulta 7.5%
Aggressive behavior -
Aplasia of the uterus -
Aplasia/Hypoplasia of the patella -
Astigmatism -
Autistic behavior -
Autosomal recessive inheritance -
Broad nasal tip -
Choanal atresia -
Cleft palate -
Coarse facial features -
Congenital diaphragmatic hernia -
Coxa valga -
Cryptorchidism -
Cutis marmorata -
Dandy-Walker malformation -
Defect in the atrial septum -
Delayed eruption of teeth -
Delayed skeletal maturation -
Depressed nasal bridge -
Dislocated radial head -
Duodenal ulcer -
Ectopic kidney -
Facial hypertrichosis -
Feeding difficulties in infancy -
Gastric ulcer -
Hearing impairment -
Hemangioma -
High palate -
Hydronephrosis -
Hypoplasia of the corpus callosum -
Hypoplastic fifth fingernail -
Hypospadias -
Hypotelorism -
Inguinal hernia -
Intellectual disability -
Intestinal malrotation -
Intrauterine growth retardation -
Intussusception -
Joint laxity -
Kyphosis -
Long eyelashes -
Lumbosacral hirsutism -
Microcephaly -
Muscular hypotonia -
Myopia -
Nystagmus -
Partial agenesis of the corpus callosum -
Patent ductus arteriosus -
Postnatal growth retardation -
Preauricular skin tag -
Ptosis -
Recurrent respiratory infections -
Renal hypoplasia -
Sacral dimple -
Scoliosis -
Seizures -
Severe expressive language delay -
Short distal phalanx of the 5th finger -
Short distal phalanx of the 5th toe -
Short stature -
Short sternum -
Single transverse palmar crease -
Sparse scalp hair -
Spina bifida occulta -
Strabismus -
Tetralogy of Fallot -
Thick eyebrow -
Thick lower lip vermilion -
Umbilical hernia -
Ventricular septal defect -
Wide mouth -

Last updated: 9/2/2014

The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature.

The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined.

Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.


References
  1. Coffin-Siris Syndrome. Genetics Home Reference. May 2013; http://www.ghr.nlm.nih.gov/condition/coffin-siris-syndrome. Accessed 9/13/2013.


Other Names for this Disease
  • Fifth digit syndrome
  • Intellectual disability with absent fifth fingernail and terminal phalanx
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.