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Chromosome 16q22 Deletion Syndrome


Presentation

  • Deletion of the disease-associated genes does not explain all the features present in our patients.[ashg.org]
  • Each diagnosis includes clinical presentation(s) of affected patients, the best sequences for imaging analysis, expected imaging sequences (in both common and uncommon presentations), and imaging examples of key features.[books.google.com]
  • Growth hormone (GH) deficiency may be present.[orpha.net]
Developmental Delay
  • delay Failure to thrive Small for gestational age Frontal bossing Poor suck Wormian bones Sporadic Depressed nasal bridge Wide intermamillary distance Postnatal growth retardation Short palpebral fissure • • • References Source: GTR (NCBI/NIH): ncbi.nlm.nih.gov[familydiagnosis.com]
  • Patient 1 was first evaluated at 17 months of age because of a history of intrauterine growth retardation, failure to thrive, developmental delay, and congenital heart defect.[ashg.org]
  • Affected individuals have dysmorphic facial features, cleft palate, distal limb defects, growth retardation, and developmental delay.[mendelian.co]
  • Mild to moderate developmental delay is found in all patients. Behavior abnormalities, such as autism, hyperactivity, aggression, and attention deficit are reported in 37%.[orpha.net]
  • delays and epilepsy 2q24.2-32.2 deletion 2q37.3 deletion Duplication at 2q37.3 of 2.3 mb and a deletion2q37.3 of 2.4 mb P Arm 2p16.3 deletion DUPLICATIONS Q Arm 2q37.3 duplication DELETIONS P Arm 3p21 Microduplication 3 p26.3-p26.2 Deletion DUPLICATIONS[arcan.org.au]
Failure to Thrive in Infancy
  • OMIM : 57 The interstitial 16q22 deletion syndrome is a multiple congenital anomaly disorder associated with failure to thrive in infancy, poor growth, delayed psychomotor development, hypotonia, and dysmorphic features, including large anterior fontanel[malacards.org]
  • The interstitial 16q22 deletion syndrome is a multiple congenital anomaly disorder associated with failure to thrive in infancy, poor growth, delayed psychomotor development, hypotonia, and dysmorphic features, including large anterior fontanel, high[ncbi.nlm.nih.gov]
Failure to Thrive
  • The patients presented with distinct and recognizable symptoms characterized by failure to thrive and dysmorphic facial features.[ashg.org]
  • OMIM : 57 The interstitial 16q22 deletion syndrome is a multiple congenital anomaly disorder associated with failure to thrive in infancy, poor growth, delayed psychomotor development, hypotonia, and dysmorphic features, including large anterior fontanel[malacards.org]
  • The interstitial 16q22 deletion syndrome is a multiple congenital anomaly disorder associated with failure to thrive in infancy, poor growth, delayed psychomotor development, hypotonia, and dysmorphic features, including large anterior fontanel, high[ncbi.nlm.nih.gov]
  • […] to thrive Small for gestational age Frontal bossing Poor suck Wormian bones Sporadic Depressed nasal bridge Wide intermamillary distance Postnatal growth retardation Short palpebral fissure • • • References Source: GTR (NCBI/NIH): ncbi.nlm.nih.gov/ gtr[familydiagnosis.com]
  • Feeding difficulties and failure to thrive are reported in about 20%. In later childhood, 30% show growth retardation and short stature and 17% obesity. Growth hormone (GH) deficiency may be present.[orpha.net]
Failure to Thrive
  • The patients presented with distinct and recognizable symptoms characterized by failure to thrive and dysmorphic facial features.[ashg.org]
  • OMIM : 57 The interstitial 16q22 deletion syndrome is a multiple congenital anomaly disorder associated with failure to thrive in infancy, poor growth, delayed psychomotor development, hypotonia, and dysmorphic features, including large anterior fontanel[malacards.org]
  • The interstitial 16q22 deletion syndrome is a multiple congenital anomaly disorder associated with failure to thrive in infancy, poor growth, delayed psychomotor development, hypotonia, and dysmorphic features, including large anterior fontanel, high[ncbi.nlm.nih.gov]
  • […] to thrive Small for gestational age Frontal bossing Poor suck Wormian bones Sporadic Depressed nasal bridge Wide intermamillary distance Postnatal growth retardation Short palpebral fissure • • • References Source: GTR (NCBI/NIH): ncbi.nlm.nih.gov/ gtr[familydiagnosis.com]
  • Feeding difficulties and failure to thrive are reported in about 20%. In later childhood, 30% show growth retardation and short stature and 17% obesity. Growth hormone (GH) deficiency may be present.[orpha.net]
Thrombosis
  • Jeffrey Weitz, Professor of Medicine at McMaster University School of Medicine and Executive Director of the Thrombosis and Atherosclerosis Research Institute in Ontario.[books.google.com]
Hypertension
  • HSD11B2 mutations and polymorphisms have been reported in apparent mineralocorticoid excess syndrome and as a risk factor for hypertension. AGRP is involved in the regulation of body weight.[ashg.org]
Visual Impairment
  • She also had hearing and visual impairment. Microarray analysis (44,000 oligos platform) revealed an estimated 0.444 Mb deletion of chromosome 16q at band 22.1, which included 25 RefSeq genes.[ashg.org]
Low Set Ears
  • […] anterior fontanel Epicanthus Hypertelorism Micrognathia High forehead Posteriorly rotated ears Low-set ears Abnormality of the pinna Wide nasal bridge Short neck Blepharophimosis Upslanted palpebral fissure Narrow chest Muscular hypotonia Global developmental[familydiagnosis.com]
  • Low-set, posteriorly rotated ears Camptodactyly of finger Joint hyperflexibility Sparse scalp hair Short philtrum Broad forehead Joint stiffness High forehead Joint laxity Congestive heart failure Thin vermilion border Joint hypermobility Motor delay Low-set[mendelian.co]
Hearing Impairment
  • impairment Elbow flexion contracture Cardiomegaly Hyperpigmentation of the skin Bronchiectasis Hypertriglyceridemia Epistaxis Blue sclerae Bilateral sensorineural hearing impairment Recurrent fractures Polyneuropathy Flat face Scleroderma Skin nodule[mendelian.co]
Low-Set Posteriorly Rotated Ears
  • , posteriorly rotated ears Camptodactyly of finger Joint hyperflexibility Sparse scalp hair Short philtrum Broad forehead Joint stiffness High forehead Joint laxity Congestive heart failure Thin vermilion border Joint hypermobility Motor delay Low-set[mendelian.co]
Hypertelorism
  • Clinical features Imported from Human Phenotype Ontology (HPO) Abnormality of head or neck Blepharophimosis Epicanthus Frontal bossing High forehead High palate Hypertelorism Hypoplastic mandible condyle Short palpebral fissure Upslanted palpebral fissure[familydiagnosis.com]
  • […] anomaly disorder associated with failure to thrive in infancy, poor growth, delayed psychomotor development, hypotonia, and dysmorphic features, including large anterior fontanel, high forehead, diastasis of the cranial sutures, broad nasal bridge, hypertelorism[malacards.org]
  • Growth delay, feeding difficulties, and distinct facial features (long face with high anterior hairline, epicanthal folds, hypertelorism, downslanting palpebral fissures, sparse and broad medial eyebrows, broad and/or depressed nasal bridge, long smooth[orpha.net]
  • OMIM GARD MESH DOID NCIT SCTID More info about TRICHORHINOPHALANGEAL SYNDROME, TYPE II; TRPS2 High match FRANK-TER HAAR SYNDROME; FTHS The primary characteristics of the Frank-ter Haar syndrome are brachycephaly, wide fontanels, prominent forehead, hypertelorism[mendelian.co]
Short Neck
  • neck Wide anterior fontanel Wormian bones Congenital anomaly of eye Hypertelorism Ear malformation Low-set ears Posteriorly rotated ears Source: GTR (NCBI/NIH) 1 • • • Back to: « Chromosome 16q22 deletion syndrome • • • Symptoms and clinical features[familydiagnosis.com]
  • neck, narrow thorax, broad first toes, mental retardation, muscular hypotonia, congenital heart defects, and gastrointestinal as well as renal anomalies. 1 More than 26 patients with different interstitial long arm deletions of chromosome 16 have been[jmg.bmj.com]
  • neck Hyperactivity Ovarian cyst Large hands Precocious puberty Intrauterine growth retardation Cachexia Acanthosis nigricans Feeding difficulties in infancy Postnatal growth retardation Neoplasm Myelofibrosis Hyperkeratosis Amenorrhea Pes planus Pes[mendelian.co]
Short Neck
  • neck Wide anterior fontanel Wormian bones Congenital anomaly of eye Hypertelorism Ear malformation Low-set ears Posteriorly rotated ears Source: GTR (NCBI/NIH) 1 • • • Back to: « Chromosome 16q22 deletion syndrome • • • Symptoms and clinical features[familydiagnosis.com]
  • neck, narrow thorax, broad first toes, mental retardation, muscular hypotonia, congenital heart defects, and gastrointestinal as well as renal anomalies. 1 More than 26 patients with different interstitial long arm deletions of chromosome 16 have been[jmg.bmj.com]
  • neck Hyperactivity Ovarian cyst Large hands Precocious puberty Intrauterine growth retardation Cachexia Acanthosis nigricans Feeding difficulties in infancy Postnatal growth retardation Neoplasm Myelofibrosis Hyperkeratosis Amenorrhea Pes planus Pes[mendelian.co]
High Forehead
  • Clinical features Imported from Human Phenotype Ontology (HPO) Abnormality of head or neck Blepharophimosis Epicanthus Frontal bossing High forehead High palate Hypertelorism Hypoplastic mandible condyle Short palpebral fissure Upslanted palpebral fissure[familydiagnosis.com]
  • forehead, diastasis of the cranial sutures, broad nasal bridge, hypertelorism, low-set abnormal ears, and short neck.[malacards.org]
  • forehead Joint laxity Congestive heart failure Thin vermilion border Joint hypermobility Motor delay Low-set ears Delayed speech and language development Short palm Thick nasal alae Long philtrum Abnormal palate morphology Abnormality of cardiovascular[mendelian.co]
Large Anterior Fontanels
  • OMIM : 57 The interstitial 16q22 deletion syndrome is a multiple congenital anomaly disorder associated with failure to thrive in infancy, poor growth, delayed psychomotor development, hypotonia, and dysmorphic features, including large anterior fontanel[malacards.org]
  • The interstitial 16q22 deletion syndrome is a multiple congenital anomaly disorder associated with failure to thrive in infancy, poor growth, delayed psychomotor development, hypotonia, and dysmorphic features, including large anterior fontanel, high[ncbi.nlm.nih.gov]
  • anterior fontanelle, hypertelorism, broad nasal bridge, low set and dysplastic ears, cleft palate, micrognathia, short neck, narrow thorax, broad first toes, mental retardation, muscular hypotonia, congenital heart defects, and gastrointestinal as well[jmg.bmj.com]
Language Delays
  • At 14 months of age he had mild expressive language delay and distinctive facial features. Microarray analysis (180,000 oligos platform) revealed a larger but overlapping deletion of chromosome 16q22.1.[ashg.org]

Treatment

  • […] illustrate complex concepts and provide at-a-glance recognition of disease processes More than 400 board review-style questions, answers, and rationales available in the eBook included with your purchase New therapies for hepatitis B and C, new drugs for the treatment[books.google.com]
  • The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.[orpha.net]
  • Management [ edit ] Treatment of cause: Due to the genetic cause, no treatment of the cause is possible.[en.wikipedia.org]

Prognosis

  • Prognosis The prognosis is variable and depends on the severity and extent of congenital malformations. The documents contained in this web site are presented for information purposes only.[orpha.net]

Etiology

  • Etiology The syndrome is caused by a microdeletion of 1.7 to 6.1 Mb in size in chromosome 15q24 which usually results from nonallelic homologous recombination (NAHR).[orpha.net]

Epidemiology

  • Summary Epidemiology The prevalence of 15q24 deletion syndrome is unknown. To date, 19 cases with clinical data and detailed mapping of genomic breakpoints have been reported.[orpha.net]
Sex distribution
Age distribution

Pathophysiology

  • Additional information is included concerning the pathophysiology and pathology of the disorders being discussed as well as basic information concerning the causative genes (when appropriate).[books.google.com]

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