GTR Home > Conditions/Phenotypes > 11q partial monosomy syndrome

Summary

Jacobsen syndrome is a condition caused by a loss of genetic material from chromosome 11. Because this deletion occurs at the end (terminus) of the long (q) arm of chromosome 11, Jacobsen syndrome is also known as 11q terminal deletion disorder. The signs and symptoms of Jacobsen syndrome vary considerably. Most affected individuals have delayed development, including the development of motor skills (such as sitting, standing, and walking) and speech. Most also have cognitive impairment and learning difficulties. Behavioral problems have been reported, including compulsive behavior (such as shredding paper), a short attention span, and easy distractibility. Many people with Jacobsen syndrome have been diagnosed with attention deficit-hyperactivity disorder (ADHD). Jacobsen syndrome is also characterized by distinctive facial features. These include small and low-set ears, widely set eyes (hypertelorism) with droopy eyelids (ptosis), skin folds covering the inner corner of the eyes (epicanthal folds), a broad nasal bridge, downturned ... corners of the mouth, a thin upper lip, and a small lower jaw. Affected individuals often have a large head size (macrocephaly) and a skull abnormality called trigonocephaly, which gives the forehead a pointed appearance. More than 90 percent of people with Jacobsen syndrome have a bleeding disorder called Paris-Trousseau syndrome. This condition causes a lifelong risk of abnormal bleeding and easy bruising. Paris-Trousseau syndrome is a disorder of platelets, which are blood cell fragments that are necessary for blood clotting. Other features of Jacobsen syndrome can include heart defects, feeding difficulties in infancy, short stature, frequent ear and sinus infections, and skeletal abnormalities. The disorder can also affect the digestive system, kidneys, and genitalia. The life expectancy of people with Jacobsen syndrome is unknown, although affected individuals have lived into adulthood. [from GHR] more

Clinical features

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  • Amblyopia
  • Pyloric stenosis
  • Strabismus
  • Thrombocytopenia
  • High forehead
  • Short stature
  • Short neck
  • Epicanthus
  • Missing ribs
  • Flat occiput
  • Intellectual disability
  • Labial hypoplasia
  • Microcephaly
  • Aplasia/Hypoplasia of the eyebrow
  • Macular hypoplasia
  • Finger syndactyly
  • Broad columella
  • Aplasia/Hypoplasia of the earlobes
  • Anteverted nares
  • Intrauterine growth retardation
  • Cognitive impairment
  • Low-set, posteriorly rotated ears
  • Telecanthus
  • Ventricular septal defect
  • Duodenal stenosis
  • Long philtrum
  • Downslanted palpebral fissures
  • Recurrent respiratory infections
  • Micrognathia
  • Seizure
  • Cataract
  • Constipation
  • Hydrocephalus
  • Premature birth
  • Macrocephaly
  • Failure to thrive
  • Intestinal malrotation
  • Multicystic kidney dysplasia
  • Cryptorchidism
  • Hypospadias
  • Clitoral hypoplasia
  • Abnormality of the palate
  • Trigonocephaly
  • Hypertelorism
  • Facial asymmetry
  • Low-set ears
  • Webbed neck
  • Microcornea
  • Ptosis
  • Chorioretinal coloboma
  • Microphthalmos
  • Nasolacrimal duct obstruction
  • Iris coloboma
  • Cleft eyelid
  • Optic atrophy
  • Pectus excavatum
  • Abnormality of the ribs
  • Eczema
  • Brachydactyly syndrome
  • Hand polydactyly
  • Spasticity
  • Holoprosencephaly
  • Flexion contracture
  • Defect in the atrial septum
  • Abnormality of the aortic valve
  • Abnormality of the aorta
  • Annular pancreas
  • Pes planus
  • Toe syndactyly
  • Short toe
  • Preaxial foot polydactyly
  • Long hallux
  • Talipes
  • Frontal bossing
  • Ventriculomegaly
  • Cerebral cortical atrophy
  • Abnormality of neuronal migration
  • Spina bifida
  • Scoliosis
  • Short nose
  • Abnormality of the hip bone
  • Abnormal form of the vertebral bodies
  • Clinodactyly of the 5th finger
  • Hernia of the abdominal wall
  • Hypoplastic left heart
  • Ectopic anus
  • Depressed nasal bridge
  • Bone marrow hypocellularity
  • Attention deficit hyperactivity disorder
  • Aplasia/Hypoplasia of the corpus callosum
  • Infantile muscular hypotonia
  • U-Shaped upper lip vermilion
  • Abnormality of immune system physiology
  • Tibial deviation of toes
  • Urogenital fistula
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