GTR Home > Conditions/Phenotypes > Chromosome 1p36 deletion syndrome

Disease characteristics

Excerpted from the GeneReview: 1p36 Deletion Syndrome
1p36 deletion syndrome is characterized by typical craniofacial features consisting of straight eyebrows, deeply set eyes, midface retrusion, wide and depressed nasal bridge, long philtrum, pointed chin, large, late-closing anterior fontanel (77%), microbrachycephaly (65%), epicanthal folds (50%), and posteriorly rotated, low-set, abnormal ears. Other characteristic findings include brachy/camptodactyly and short feet. Developmental delay/intellectual disability of variable degree are present in all, and hypotonia in 95%. Seizures occur in 44%-58% of affected individuals. Other findings include structural brain abnormalities (88%), congenital heart defects (71%), eye/vision problems (52%), hearing loss (47%), skeletal anomalies (41%), abnormalities of the external genitalia (25%), and renal abnormalities (22%).

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Clinical features

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  • Hirsutism
  • Pyloric stenosis
  • West syndrome
  • Strabismus
  • EEG abnormalities
  • Polyphagia
  • Short stature
  • Aggressive behavior
  • Optic disc pallor
  • Short foot
  • Hypsarrhythmia
  • Epicanthus
  • Agenesis of corpus callosum
  • Prominent forehead
  • Gait disturbance
  • 11 pairs of ribs
  • Impaired social interactions
  • Pointed chin
  • Thickened helices
  • Depressed nasal ridge
  • Intellectual disability
  • Kyphosis
  • Microcephaly
  • Posteriorly rotated ears
  • Midface retrusion
  • Dysphagia
  • Hypoplasia of the corpus callosum
  • Cognitive impairment
  • Dilation of lateral ventricles
  • Low-set, posteriorly rotated ears
  • Malar flattening
  • Ventricular septal defect
  • Microtia
  • Long philtrum
  • Downslanted palpebral fissures
  • Wide anterior fontanel
  • Seizure
  • Cataract
  • Constipation
  • Hydrocephalus
  • Nystagmus
  • Obesity
  • Renal cyst
  • Self-mutilation
  • Feeding difficulties in infancy
  • Noncompaction cardiomyopathy
  • Hypothyroidism
  • Synophrys
  • Horizontal eyebrow
  • Cryptorchidism
  • Hypospadias
  • Abnormality of female external genitalia
  • Abnormality of the kidney
  • Narrow mouth
  • Submucous cleft hard palate
  • Bifid uvula
  • Cleft upper lip
  • High palate
  • Abnormality of the fontanelles and cranial sutures
  • Brachycephaly
  • Abnormality of the mandible
  • Hypertelorism
  • Low-set ears
  • Conductive hearing impairment
  • Sensorineural hearing impairment
  • Wide nasal bridge
  • Abnormality of the neck
  • Deeply set eye
  • Visual impairment
  • Abnormality of the eyebrow
  • Hypermetropia
  • Myopia
  • Blepharophimosis
  • Upslanted palpebral fissure
  • Optic nerve coloboma
  • Optic atrophy
  • Autism
  • Stereotypic behavior
  • Delayed speech and language development
  • Abnormality of the ribs
  • Congenital hypothyroidism
  • Bifid ribs
  • Rib fusion
  • Hypermelanotic macule
  • Ocular albinism
  • Brachydactyly syndrome
  • Muscular hypotonia
  • Global developmental delay
  • Pachygyria
  • Hip dysplasia
  • Hepatic steatosis
  • Delayed closure of the anterior fontanelle
  • Growth delay
  • Tetralogy of Fallot
  • Hypertrophic cardiomyopathy
  • Patent ductus arteriosus
  • Dilated cardiomyopathy
  • Bicuspid aortic valve
  • Abnormality of the heart valves
  • Patent foramen ovale
  • Abnormality of the cardiac septa
  • Abnormality of the aorta
  • Annular pancreas
  • Abnormality of the spleen
  • Pes cavus
  • Foot polydactyly
  • Short toe
  • Metatarsus adductus
  • Frontal bossing
  • Gastroesophageal reflux
  • Abnormal lung lobation
  • Ventriculomegaly
  • Cerebral cortical atrophy
  • Polymicrogyria
  • Neurological speech impairment
  • Delayed CNS myelination
  • Abnormality of the intestine
  • Leukoencephalopathy
  • Aortic root dilatation
  • Scoliosis
  • Delayed skeletal maturation
  • Neuroblastoma
  • Myopathy
  • Spinal canal stenosis
  • Clinodactyly of the 5th finger
  • Hemiplegia/hemiparesis
  • Abnormality of the anus
  • Depressed nasal bridge
  • Cranial nerve VI palsy
  • Aplasia/Hypoplasia of the corpus callosum
  • Abnormal blistering of the skin
  • Hypoplasia of penis
  • Short 5th finger
  • Abnormality of the hairline
  • Ebstein's anomaly of the tricuspid valve
  • Asymmetry of the ears
  • Oppositional defiant disorder
  • Abnormality of immune system physiology
  • Camptodactyly of finger
  • Lower limb asymmetry
  • Teleangiectasia of the skin
  • Displacement of the external urethral meatus
  • Self-injurious behavior
  • Abnormal eating behavior
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