A 15-month-old boy presented with growth and global developmental delay, feeding difficulties, sleep disturbance and several minor anomalies, including a large anterior fontanel, relative macrocephaly, and a triangular face. [freemedart.ru]

An echocardiogram performed at that time revealed a CHD presenting with an atrial septal defect (ASD) and a patent foramen ovale (PFO). [molecularcytogenetics.biomedcentral.com]

Deletion of the disease-associated genes does not explain all the features present in our patients. [ashg.org]

It is important to note that exceptions may also occur, where individuals with small amount of chromosomal loss, may have disproportionately severe presentations. [dovemed.com]

In addition, triphalangeal thumbs, unilateral preaxial polydactyly, and a slightly anteriorly placed anus were present. Autosomal dominant inheritance was suggested in this family. [jmg.bmj.com]

• Single Transverse Palmar Crease

  Single transverse palmar crease MedGen UID: 96108 •Concept ID: C0424731 • Finding The distal and proximal transverse palmar creases are merged into a single transverse palmar crease. [ncbi.nlm.nih.gov]

  […] of the phalanges of the hand Oligospermia Short phalanx of finger Talipes equinovarus Dental malocclusion Thick vermilion border Delayed eruption of teeth Single transverse palmar crease Smooth philtrum Corneal opacity Skeletal dysplasia Kyphoscoliosis [mendelian.co]

• Constitutional Symptom

  symptom (HP:0025142) Abnormal cellular phenotype (HP:0025354) Abnormality of the musculoskeletal system (HP:0033127) Abnormality of the thoracic cavity (HP:0045027) Voir plus Pré-analytique : 5 ml de sang total ou ADN extrait Température ambiante Options [staging.biomnis.blueshiftagency.co.uk]

• Malnutrition

  Chromosome 16q Deletion Syndrome may present complications such as malnutrition due to feeding difficulties, delayed achievement of milestones, and reduced quality of life This chromosomal anomaly may develop from sporadic mutations (majority of cases [dovemed.com]

• Failure to Thrive

  Failure to thrive MedGen UID: 746019 •Concept ID: C2315100 • Disease or Syndrome Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm. [ncbi.nlm.nih.gov]

  The former includes low birth weight, hypotonia, feeding disturbances, failure to thrive, and delayed psychomotor development. [docksci.com]

  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]

• Small Palpebral Fissures

  palpebral fissures + - + Upward slant of palpebral fissures + - Micrognathia + - + High-arched palate - + Short neck + + + Thorax and abdomen CHD + Narrow thorax + + Ectopic anus + - + Musculoskeletal Small hands and small feet + Simian creases + Broad [docksci.com]

• 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]

  Sensorineural hearing loss disorder MedGen UID: 9164 •Concept ID: C0018784 • Disease or Syndrome A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve. [ncbi.nlm.nih.gov]

  impairment Vision defects Developmental delays Heart abnormalities may be observed in nearly 45% of the cases. [dovemed.com]

• Psychomotor Retardation

  Comparison of Manifestations of 16q- Syndromes (Table Adapted From Lin et al., 1983 and Arranged)" Number of Reports 1 2 _ _ _ ~3 Growth Low birth weight + - + Failure to thrive +- + + Microcephaly + CNS and Development + Psychomotor retardation N K + [docksci.com]

• Large Anterior Fontanels

  A 15-month-old boy presented with growth and global developmental delay, feeding difficulties, sleep disturbance and several minor anomalies, including a large anterior fontanel, relative macrocephaly, and a triangular face. [freemedart.ru]

  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]

  The latter includes prominent forehead, wide anterior fontanel, diastasis of cranial sutures, blepharostenosis, ocular hypertelorism, apparently low-set and deformed ears, and brevicollis and form a characteristic facial appearance. [docksci.com]

• Short Neck

  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]

  Short neck MedGen UID: 99267 •Concept ID: C0521525 • Finding Diminished length of the neck. [ncbi.nlm.nih.gov]

  neck + + + Thorax and abdomen CHD + Narrow thorax + + Ectopic anus + - + Musculoskeletal Small hands and small feet + Simian creases + Broad halluces + + *+, present; -, absent; NK, not known. 11, Resent case. 4 + + + + 5A 5B _. 6A + + + + + - + + + [docksci.com]

• Global Developmental Delay

  A 15-month-old boy presented with growth and global developmental delay, feeding difficulties, sleep disturbance and several minor anomalies, including a large anterior fontanel, relative macrocephaly, and a triangular face. [freemedart.ru]

  developmental 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 [familydiagnosis.com]

  Global developmental delay MedGen UID: 107838 •Concept ID: C0557874 • Finding A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social [ncbi.nlm.nih.gov]

  […] puberty Synophrys Hirsutism Decreased testicular size Anteverted nares Delayed skeletal maturation Micrognathia Autosomal recessive inheritance Deeply set eye Global developmental delay Brachydactyly Nevus Seizures Microcephaly Ventriculomegaly Scoliosis [mendelian.co]

  developmental delay, feeding difficulties, sleep disturbance and several minor anomalies, including a large anterior fontanel, relative macrocephaly, and a triangular face. [karger.com]

and in some cases, due to treatment also. [dovemed.com]

[…] 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]

What is the Prognosis of Chromosome 16q Deletion Syndrome? (Outcomes/Resolutions) The prognosis of Chromosome 16q Deletion Syndrome is dependent upon the severity of the signs and symptoms and associated complications, if any. [dovemed.com]

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]

PMID: 31353122 Prognosis Janiszewska-Olszowska J, Gawrych E, Dydyk A, Studniak E, Biaduń-Popławska A, Zajączek S J Craniomaxillofac Surg 2013 Jan;41(1):e29-32. Epub 2012 Jul 24 doi: 10.1016/j.jcms.2012.06.002. [ncbi.nlm.nih.gov]

[from OMIM] From HPO Cryptorchidism MedGen UID: 8192 •Concept ID: C0010417 • Congenital Abnormality Cryptorchidism, or failure of testicular descent, is a common human congenital abnormality with a multifactorial etiology that likely reflects the involvement [ncbi.nlm.nih.gov]

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]

(Etiology) The causes of Chromosome 16q Deletion Syndrome may include the following: A de-novo deletion of genetic material in the long arm of chromosome 16, which is the most common reason for the disorder Rarely, inheritance of the condition from a [dovemed.com]

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]

How can Chromosome 16q Deletion Syndrome be Prevented? Chromosome 16q Deletion Syndrome may not be preventable since many of these genetic disorders are diagnosed at or following the birth of the child. [dovemed.com]