Possible Causes for Failure to Thrive in Infancy Nephropathic Cystinosis […] to thrive in infancy Faltering weight in infancy Weight faltering in infancy [ more ] 0001531 Frontal bossing 0002007 Generalized aminoaciduria 0002909 Genu valgum Knock [rarediseases.info.nih.gov] […] cystine 0003358 Episodic metabolic acidosis 0004911 Exocrine pancreatic insufficiency Inability to properly digest food due to lack of pancreatic digestive enzymes 0001738 Failure [rarediseases.info.nih.gov] Noonan Syndrome Behavioral characteristics include failure to thrive in infancy (40%), motor developmental delay (20%), learning disability (15%), language delay (20%), mild hearing loss [indianpediatrics.net] […] to thrive in infancy Faltering weight in infancy Weight faltering in infancy [ more ] 0001531 High, narrow palate Narrow, high-arched roof of mouth Narrow, highly arched [rarediseases.info.nih.gov] […] bite Malalignment of upper and lower dental arches Misalignment of upper and lower dental arches [ more ] 0000689 Epicanthus Eye folds Prominent eye folds [ more ] 0000286 Failure [rarediseases.info.nih.gov] Freeman-Sheldon Syndrome But swallowing difficulties as well as vomiting can lead to failure to thrive during infancy and in some cases retarded growth can occur. [syndrome.org] Infancy may be characterized by failure-to-thrive, due to microstomia, micrognathia and high palate. [orpha.net] Other issues, particularly in infancy include feeding difficulties related to swallowing, frequent vomiting and a failure to thrive. * This composite image of Arthrogryposis [fdna.health] Abetalipoproteinemia It results in fatty stools, diarrhea, failure to thrive in infancy, and problems with nerves. [medical-dictionary-search-engines.com] Patients with ABL typically manifest steatorrhea, vomiting, and failure to thrive in infancy. [jstage.jst.go.jp] Symptoms Failure to thrive (grow) in infancy Fatty stools that appear pale in color Frothy stools Abnormally foul-smelling stools Protruding abdomen Developmental delay Poor [medical-dictionary-search-engines.com] 18-Hydroxylase Deficiency […] to thrive in infancy Hyperkalemia Decreased circulating aldosterone level Increased level of 3-hydroxy-3-methylglutaric acid in urine Need help with a diagnosis? [mendelian.co] […] to thrive ; Feeding difficulties in infancy ; Growth delay ; Hyperkalemia ; Hyponatremia ; Hypotension ; Increased circulating renin level ; Neonatal onset ; Renal salt wasting [mousephenotype.org] Top 5 symptoms associated to CYP11B2 gene Symptoms // Phenotype % Cases Autosomal recessive inheritance Common - Between 50% and 80% cases Failure to thrive in infancy Common [mendelian.co] Postaxial Oligodactyly, Tetramelic Allergies - environmental, food, medication: NKDA Clinical symptoms and physical findings Growth parameters Weight for age Decreased body weight ( Failure to thrive Failure [playground.phenotips.org] […] to thrive in infancy Eunuchoid habitus Musculoskeletal Postaxial foot polydactyly Click on terms below (extracted from the phenotypic description) to disable or re-enable [playground.phenotips.org] Component Complement 5 Deficiency […] erythroderma, diarrhea, and failure to thrive Erythroderma desquamativa of Leiner Erythroderma Desquamativum of Infancy Leiner disease Leiner-Moussous Desquamative Erythroderma [wikidata.org] Synonyms Generalized erythroderma, diarrhea, and failure to thrive Erythroderma Desquamativum of Infancy Leiner-Moussous Desquamative Erythroderma Overview No overview is [rarediseases.org] […] also known as generalized erythroderma, diarrhea, and failure to thrive. [malacards.org] Disproportionate Short Stature - Ptosis - Valvular Heart Lesions […] to thrive in infancy as a result of severe postnatal feeding difficulties; short stature; developmental delay or intellectual disability; coarse facial features (full lips [rasopathiesnet.org] Infants with Williams syndrome are often born small for their family and 70% are diagnosed with failure to thrive during infancy. [encyclopedia.com] Gastrointestinal tract [ edit ] Failure to thrive from infancy to puberty (75%) Decreased appetite Digestive problems Frequent or forceful vomiting Swallowing difficulties [en.wikipedia.org] Hawkinsinuria It results in metabolic acidosis and failure to thrive in infancy. Hypertyrosinemia is minimal or absent. [ommbid.mhmedical.com] Metabolic acidosis and failure to thrive appear to be confined to infancy. [ncbi.nlm.nih.gov] […] to thrive in infancy Nephrolithiasis Abdominal distention Malabsorption Abnormality of metabolism/homeostasis Nevus Weight loss Fatigue Hypoglycemia Diffuse cerebellar atrophy [mendelian.co] Transient Neonatal Hypertyrosinemia It results in metabolic acidosis and failure to thrive in infancy. Hypertyrosinemia is minimal or absent. [ommbid.mhmedical.com] Diagnostic Approach to Inborn Errors of Metabolism with Chronic Diarrhea, Poor Feeding, Vomiting, Failure to Thrive Early Infancy Disorders Associated with Extraneurological [obgynkey.com] Severe metabolic acidosis, ketosis, failure to thrive, mild hepatomegaly, and an unusual odor (like that of a swimming pool) are described. [clinicalgate.com] Noonan Syndrome 3 Gastrointestinal tract [ edit ] Failure to thrive from infancy to puberty (75%) Decreased appetite Digestive problems Frequent or forceful vomiting Swallowing difficulties [en.wikipedia.org] Congenital Disorder of Glycosylation Type 2H Failure to thrive in infancy MedGen UID: 358083 •Concept ID: C1867873 • Finding Interface hepatitis MedGen UID: 1694661 •Concept ID: C5139205 • Disease or Syndrome Inflammation [ncbi.nlm.nih.gov] […] to thrive in infancy Etiology Am J Med Genet A 2019 Mar;179(3):480-485. [ncbi.nlm.nih.gov] […] speech Cerebellar ataxia Cerebellar atrophy Encephalopathy Global developmental delay Intellectual disability Seizure Status epilepticus Ventriculomegaly Growth abnormality Failure [ncbi.nlm.nih.gov] Mosaic Trisomy 14 […] rate (failure to thrive) during infancy. [rarediseases.org] The disorder may be characterized by growth delays before birth (intrauterine growth retardation); failure to grow and gain weight at the expected rate (failure to thrive) [rarediseases.org] […] during infancy; delays in the acquisition of skills requiring the coordination of mental and physical abilities (psychomotor delays); and mental retardation. [rarediseases.org] Chromosome 16q22 Deletion Syndrome OMIM : 57 The interstitial 16q22 deletion syndrome is a multiple congenital anomaly disorder associated with failure to thrive in infancy, poor growth, delayed psychomotor [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 [ncbi.nlm.nih.gov] Mosaic Trisomy 9 Mosaic trisomy 9 is commonly characterized by growth deficiency beginning before birth, failure to grow and gain weight at the expected rate (failure to thrive) during infancy [rarediseases.org] X-linked Mental Retardation Type Cabezas The child displayed feeding difficulty and failure to thrive in newborn infancy. [ncbi.nlm.nih.gov] Mitochondrial Complex 1 Deficiency Nuclear Type 13 Affected individuals have hypotonia, weakness, and failure to thrive, resulting in death in infancy. [ncbi.nlm.nih.gov] Mitochondrial Complex 3 Deficiency Nuclear Type 4 […] to thrive Faltering weight Weight faltering [ more ] 0001508 Feeding difficulties in infancy 0008872 Generalized hypotonia Decreased muscle tone Low muscle tone [ more ] [rarediseases.info.nih.gov] […] transaminase High liver enzymes 0002910 Emotional lability Emotional instability 0000712 Exercise intolerance Decreased ability to exercise Inability to exercise [ more ] 0003546 Failure [rarediseases.info.nih.gov] Muscular Dystrophy-Dystroglycanopathy Type A11 ORPHA:50918 Cystinosis, Nephropathic Dehydration, Weight loss, Failure to thrive in infancy OMIM:219800 Aicardi-Goutieres Syndrome 9 Chilblains, Failure to thrive, Ascites [mousephenotype.org] Failure to thrive ORPHA:2131 Hirschsprung Disease Weight loss, Failure to thrive in infancy ORPHA:388 Christianson Syndrome Cachexia, Death in early adulthood ORPHA:85278 [mousephenotype.org] […] to thrive, Death in infancy, Dehydration, Hyperaldosteronism, Joint... [mousephenotype.org] Mitochondrial Complex 3 Deficiency Nuclear Type 6 […] to thrive Faltering weight Weight faltering [ more ] 0001508 Feeding difficulties in infancy 0008872 Generalized hypotonia Decreased muscle tone Low muscle tone [ more ] [rarediseases.info.nih.gov] […] transaminase High liver enzymes 0002910 Emotional lability Emotional instability 0000712 Exercise intolerance Decreased ability to exercise Inability to exercise [ more ] 0003546 Failure [rarediseases.info.nih.gov] Yuan-Harel-Lupski Syndrome Most patients had feeding difficulties, hypotonia, and failure to thrive in infancy, and all had global developmental delay with delayed walking, speech delay, and behavioral [findzebra.com] Monogenic Diabetes Affected individuals have slow growth before birth followed by hyperglycemia, dehydration and failure to thrive in infancy. [rarediseases.info.nih.gov] Bartter Syndrome Type 4 […] to thrive in infancy Bartter syndrome type IVA BSND Barttin (B-subunit of CLC-Ka and CLC-Kb) Antenatal Bartter syndrome (hyperprostaglandin E syndrome) and sensorineural [wikidoc.org] […] to thrive in infancy, EAST syndrome Classic Bartter III (602522) CLCNKB/1p36 ClC-Kb chloride channel DCT Thiazide type Hypomagnesemia, hypocalciuria, EAST syndrome Bartter [hindawi.com] […] to thrive and chronic renal failure developing during infancy.(11. [scielo.br] Witteveen-Kolk Syndrome ORPHA:465508 Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome Failure to thrive in infancy, Abnormal blood ion concentration, Hypocalcemia, Hypoalbuminemia [mousephenotype.org] […] to thrive in infancy. [medicover-genetics.com] ORPHA:2298 Triokinase And Fmn Cyclase Deficiency Syndrome Failure to thrive in infancy, Hypoalbuminemia OMIM:618805 Pigmented Nodular Adrenocortical Disease, Primary, 1 Decreased [mousephenotype.org] Dupont Sellier Chochillon Syndrome While some of those affected may be asymptomatic, others may exhibit the following signs and symptoms: Failure to thrive in the neonatal and infancy phases Nausea and vomiting [dovemed.com] Mosaic Trisomy 7 Mosaic trisomy 9 is commonly characterized by growth deficiency beginning before birth, failure to grow and gain weight at the expected rate (failure to thrive) during infancy [rarediseases.org] Ventricular Septal Defect […] to thrive in infancy) Heart failure Infective endocarditis (bacterial infection of the heart) Pulmonary hypertension (high blood pressure in the lungs) leading to failure [nlm.nih.gov] […] ventricle from the aorta) Damage to the electrical conduction system of the heart during surgery (causing an irregular or slow heart rhythm) Delayed growth and development (failure [medlineplus.gov] […] ventricle from the aorta) Damage to the electrical conduction system of the heart during surgery (causing an irregular or slow heart rhythm) Delayed growth and development ( failure [nlm.nih.gov] Fatal Infantile Lactic Acidosis with Methylmalonic Aciduria Clinically it manifests with severe psychomotor delay, hypotonia, failure to thrive, feeding difficulties and dystonia. [orpha.net] ORPHA:17 Classification level: Disorder Synonym(s): - Prevalence: Unknown Inheritance: Autosomal recessive Age of onset: Infancy, Neonatal ICD-10: E71.1 OMIM: 245400 UMLS: [orpha.net] Brachmann-De Lange-Like Facial Changes with Microcephaly, Metatarsus Adductus, and Developmental Delay In addition, affected individuals may remain low in weight and exhibit abnormally short stature (prenatal and postnatal growth retardation), failure to thrive during infancy [rarediseases.org] Cardio-Facio-Cutaneous Syndrome Type 4 Failure to thrive during infancy is typical, as are gastrointestinal complications such as reflux, vomiting, oral aversion, and constipation. [invitae.com]
