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]

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 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]

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]

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]

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]

[…] 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]

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]

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]

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]

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]

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]

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]

nasal bridge, hypertelorism, low-set abnormal ears, and short neck. [malacards.org]

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 as renal anomalies. 1 More than 26 patients [jmg.bmj.com]

Mutations in NOL3 have been shown to cause adult onset familial cortical myoclonus syndrome in the Menonite population. [ashg.org]

36 Cramps: 2, 3 UMN signs Common: SCA 1, 3, 7, 9, 12, 35 Some: SCA 6, 8 Rarely: SCA 2 Spastic ataxias Extrapyramidal Akinesia/rigidity/dystonia: SCA 3, 9, 17, 21 ; 12 (Akinesia) Chorea Early/prominent: DRPLA, 17, 27 ; Rarely SCA 2 Dyskinesia: SCA 27 Myoclonus [neuromuscular.wustl.edu]

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]