Failure to thrive, and Umbilical hernia

Diseases related with Failure to thrive and Umbilical hernia

In the following list you will find some of the most common rare diseases related to Failure to thrive and Umbilical hernia that can help you solving undiagnosed cases.

Top matches:

Deficiency of lysosomal acid lipase causes 2 distinct phenotypes in humans: Wolman disease and cholesteryl ester storage disease (CESD). Wolman disease is an early-onset fulminant disorder of infancy with massive infiltration of the liver, spleen, and other organs by macrophages filled with cholesteryl esters and triglycerides. Death occurs early in life. Wolman disease is very rare, with an incidence of less than one in 100,000 live births. CESD is a milder, later-onset disorder with primary hepatic involvement by macrophages engorged with cholesteryl esters. This slowly progressive visceral disease has a very wide spectrum of involvement ranging from early onset with severe cirrhosis to later onset of more slowly progressive hepatic disease with survival into adulthood (summary by Du et al., 2001).

LYSOSOMAL ACID LIPASE DEFICIENCY Is also known as lal deficiency|cholesterol ester hydrolase deficiency|cholesteryl ester storage disease|lipa deficiency|cesd

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Failure to thrive
  • Anemia
  • Hypertension


SOURCES: ORPHANET OMIM MENDELIAN

More info about LYSOSOMAL ACID LIPASE DEFICIENCY

Progeroid syndrome, Petty type is a rare premature aging syndrome characterized by pre-and postnatal growth retardation, a congenital premature-aged appearance with distinctive craniofacial dysmorphism (wide calvaria with large open anterior fontanel and wide metopic suture, broad forehead, small face, micrognathia), markedly diminished subcutaneous fat, cutis laxa and wrinkled skin, without delay in psychomotor development. Scant, brittle hair, hypoplastic nails and delayed, abnormal dentition, as well as hypoplastic distal phalanges, umbilical hernia and eye abnormalities (myopia/hyperopia, strabismus), are also commonly associated.

PROGEROID SYNDROME, PETTY TYPE Is also known as petty syndrome|petty-laxova-wiedemann syndrome

Related symptoms:

  • Short stature
  • Failure to thrive
  • Strabismus
  • Epicanthus
  • Intrauterine growth retardation


SOURCES: ORPHANET MENDELIAN

More info about PROGEROID SYNDROME, PETTY TYPE

Juvenile polyposis syndrome is an autosomal dominant condition that predisposes gene carriers to various types of tumors. The diagnosis is based on the occurrence of hamartomatous gastrointestinal polyps that turn into malignant lesions in approximately 20% of cases (Handra-Luca et al., 2005).It had been suggested that juvenile polyposis can be caused by mutations in the PTEN gene (OMIM ), the same gene that is mutant in Cowden syndrome-1 (OMIM ). In a comprehensive review of PTEN, Waite and Eng (2002) concluded that juvenile intestinal polyposis is not a so-called PTEN hamartoma-tumor syndrome (PHTS). They suggested that the discovery of the germline PTEN mutation in an individual considered to have JPS should raise a suspicion that the clinical diagnosis is incorrect and that such an individual should be managed medically in the same manner as all patients with PHTS.

JUVENILE POLYPOSIS SYNDROME; JPS Is also known as polyposis, juvenile intestinal|pji|jip|juvenile intestinal polyposis|polyposis, familial, of entire gastrointestinal tract

Related symptoms:

  • Seizures
  • Neoplasm
  • Failure to thrive
  • Pain
  • Cryptorchidism


SOURCES: OMIM MENDELIAN

More info about JUVENILE POLYPOSIS SYNDROME; JPS

Other less relevant matches:

High match ICF SYNDROME

The Immunodeficiency, Centromeric region instability, Facial anomalies syndrome (ICF) is a rare autosomal recessive disease characterized by immunodeficiency, although B cells are present, and by characteristic rearrangements in the vicinity of the centromeres (the juxtacentromeric heterochromatin) of chromosomes 1 and 16 and sometimes 9.

ICF SYNDROME Is also known as centromeric instability, immunodeficiency syndrome|immune deficiency, variable, with centromeric instability of chromosomes 1, 9, and 16|ciid|immunodeficiency-centromeric instability-facial anomalies syndrome|immunodeficiency syndrome, variable

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hypertelorism
  • Failure to thrive


SOURCES: ORPHANET OMIM MENDELIAN

More info about ICF SYNDROME

Lethal polymalformative syndrome, Boissel type is a rare, genetic, lethal, multiple congenital anomalies/dysmorphic syndrome characterized by failure to thrive, severe developmental delay, severe postanatal microcephaly, frequent congenital cardiac defects and characteristic facial dysmorphysm (including coarse face with anteverted nostrils, thin vermillion, prominent alveolar ridge and retro- or micrognatia). Additional common features include neurologic abnormalities (hyper-/hypotonia, sensorineural deafness, hydrocephalus, cerebral atrophy, seizures), as well as brachydactyly, cutis marmorata and genital anomalies.

Related symptoms:

  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Microcephaly
  • Growth delay


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about LETHAL POLYMALFORMATIVE SYNDROME, BOISSEL TYPE

Autosomal dominant anomaly characterized by abnormal ovoid shape GRANULOCYTE nuclei and their clumping chromatin. Mutations in the LAMIN B receptor gene that results in reduced protein levels are associated with the disorder. Heterozygote individuals are healthy with normal granulocyte function while homozygote individuals occasionally have skeletal anomalies, developmental delay, and seizures.

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hypertelorism
  • Failure to thrive
  • Strabismus


SOURCES: OMIM MESH MENDELIAN

More info about PELGER-HUET ANOMALY; PHA

Pancreatic hypoplasia-diabetes-congenital heart disease syndrome is characterized by partial pancreatic agenesis, diabetes mellitus, and heart anomalies (including transposition of the great vessels, ventricular or atrial septal defects, pulmonary stenosis, or patent ductus arteriosis).

PANCREATIC HYPOPLASIA-DIABETES-CONGENITAL HEART DISEASE SYNDROME Is also known as pancreatic hypoplasia, congenital, with diabetes mellitus and congenital heart disease|pancreatic agenesis and congenital heart defects|pachd|yorifuji-okuno syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Microcephaly
  • Failure to thrive


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about PANCREATIC HYPOPLASIA-DIABETES-CONGENITAL HEART DISEASE SYNDROME

High match LEPRECHAUNISM

Leprechaunism is a congenital form of extreme insulin resistance (a group of syndromes that also includes Rabson-Mensenhall syndrome, type A insulin-resistance syndrome, and acquired type B insulin-resistance syndrome; see these terms) characterized by intrauterine and mainly postnatal severe growth retardation.

LEPRECHAUNISM Is also known as donohue syndrome|leprechaunism

Related symptoms:

  • Intellectual disability
  • Short stature
  • Microcephaly
  • Growth delay
  • Hypertelorism


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about LEPRECHAUNISM

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hearing impairment
  • Failure to thrive
  • Micrognathia


SOURCES: OMIM MENDELIAN

More info about MEIER-GORLIN SYNDROME 6; MGORS6

AUTOSOMAL RECESSIVE MULTIPLE PTERYGIUM SYNDROME Is also known as autosomal recessive non-lethal multiple pterygium syndrome|escobar variant multiple pterygium syndrome|evmps|escobar syndrome

Related symptoms:

  • Short stature
  • Hearing impairment
  • Microcephaly
  • Scoliosis
  • Hypertelorism


SOURCES: ORPHANET MENDELIAN

More info about AUTOSOMAL RECESSIVE MULTIPLE PTERYGIUM SYNDROME

Top 5 symptoms//phenotypes associated to Failure to thrive and Umbilical hernia

Symptoms // Phenotype % cases
Cryptorchidism Common - Between 50% and 80% cases
Intrauterine growth retardation Common - Between 50% and 80% cases
Hernia Common - Between 50% and 80% cases
Short stature Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Failure to thrive and Umbilical hernia. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Global developmental delay Hypertelorism Strabismus Microcephaly Depressed nasal bridge Macrocephaly Seizures Cleft palate Inguinal hernia Epicanthus Ventricular septal defect Hearing impairment Micrognathia Hypertension Abnormal facial shape Recurrent respiratory infections Diarrhea Small for gestational age Anteverted nares Anemia Low-set ears

Rare Symptoms - Less than 30% cases

Respiratory tract infection Macroglossia Cutis laxa Delayed myelination Cognitive impairment High forehead Skeletal muscle atrophy Wide mouth Lipoatrophy Delayed skeletal maturation Respiratory distress Severe short stature Patent ductus arteriosus Long philtrum Thick vermilion border Recurrent infections Growth delay Conductive hearing impairment Short nose Severe failure to thrive Downslanted palpebral fissures Protruding tongue Generalized hirsutism Reduced subcutaneous adipose tissue Frontal bossing Gingival overgrowth Feeding difficulties Jaundice Malabsorption Abdominal distention Hepatic fibrosis Hyperglycemia Cachexia Portal hypertension Malnutrition Hearing abnormality Low-set, posteriorly rotated ears Oligohydramnios Epidermal acanthosis Thick lower lip vermilion Hypertrichosis Cholestasis Insulin resistance Gynecomastia Acanthosis nigricans Hyperinsulinemia Hyperbilirubinemia Precocious puberty Clitoral hypertrophy Anterior pituitary agenesis Cardiac arrest Congenital diaphragmatic hernia Congenital defect of the pericardium Patent foramen ovale Aplasia/Hypoplasia of the gallbladder Tetralogy of Fallot Intestinal malrotation Gliosis Microcolon Large hands Glucose intolerance Pulmonic stenosis Decreased muscle mass Hypermelanotic macule Left-to-right shunt Abnormal cardiac septum morphology Elevated hepatic transaminase Severe intrauterine growth retardation Hepatitis Hypoplasia of right ventricle Type II diabetes mellitus Double outlet left ventricle Cervical ribs Colon perforation Biliary atresia Total absence of the pericardium Perimembranous ventricular septal defect Interrupted aortic arch Ureteral duplication Prolonged partial thromboplastin time Mild microcephaly Single umbilical artery Dysphagia Truncus arteriosus Pulmonary artery stenosis Hypoplastic tricuspid valve Hyperkeratosis Pancreatic hypoplasia Proptosis Intermittent diarrhea Macrotia Hypoglycemia Feeding difficulties in infancy Postnatal growth retardation Hirsutism Pancreatic aplasia Exocrine pancreatic insufficiency Neonatal insulin-dependent diabetes mellitus Congenital hypothyroidism Nail dysplasia Transposition of the great arteries Glycosuria High, narrow palate Thick nasal alae Thickened nuchal skin fold Abnormality of the foot Webbed neck Limitation of joint mobility Nevus Pulmonary hypoplasia Long face Oral cleft Abnormality of movement Facial asymmetry Arthrogryposis multiplex congenita Low posterior hairline Dolichocephaly Finger syndactyly Camptodactyly of finger Telecanthus Hypogonadism Pectus excavatum Abnormality of cardiovascular system morphology Gait disturbance Hypoplasia of penis Pointed chin Ptosis Rib fusion Morphological abnormality of the gastrointestinal tract Abnormality of skeletal morphology Axillary pterygium Antecubital pterygium Popliteal pterygium Multiple pterygia Abnormality of the tongue Abnormal aortic valve morphology Aplasia/Hypoplasia of the abdominal wall musculature Spina bifida occulta Symphalangism affecting the phalanges of the hand Abnormal eyelid morphology Aplasia/Hypoplasia of the skin Abnormality of the sternum Vertebral segmentation defect Neonatal respiratory distress Aortic aneurysm Pterygium Scrotal hypoplasia High palate Scoliosis Long foot Elfin facies Gastroesophageal reflux Posteriorly rotated ears Midface retrusion Motor delay Delayed speech and language development Asymmetry of the breasts Prominent nipples Adipose tissue loss Postprandial hyperglycemia Microtia Female pseudohermaphroditism Absence of subcutaneous fat Pancreatic islet-cell hyperplasia Abnormality of the abdominal wall Long penis Fasting hypoglycemia Ovarian cyst Small face Concave nasal ridge Hyperlordosis Delayed puberty Nasogastric tube feeding Cortical gyral simplification Tracheobronchomalacia Subglottic stenosis Bronchomalacia Entropion Patellar aplasia Hypoplastic labia majora Stenosis of the external auditory canal Tracheomalacia Emphysema Single transverse palmar crease Short middle phalanx of finger Laryngomalacia Sandal gap Microretrognathia Depressed nasal ridge Lumbar hyperlordosis Hip dysplasia Growth hormone deficiency Underdeveloped nasal alae Neonatal hypotonia Leukemia Diabetes mellitus Headache Chest pain Vertigo Cough Stroke Carcinoma Dyspnea Abdominal pain Congestive heart failure Cyanosis Fatigue Pain Neoplasm Long eyelashes in irregular rows Shagreen patch Decreased skull ossification Prematurely aged appearance Brittle hair Gastrointestinal hemorrhage Epistaxis Reduced number of teeth Clubbing of fingers Intussusception Melena Hematemesis Hamartomatous polyposis Stomach cancer Rectal prolapse Intestinal polyposis Hematochezia Telangiectasia Hemoptysis Polycythemia Hamartoma Colon cancer Clubbing Hypoalbuminemia Hypokalemia Diplopia Redundant skin Abnormal dermatoglyphics Duodenal adenocarcinoma Hepatic failure Atherosclerosis Increased body weight Leukodystrophy Hypertriglyceridemia Pulmonary arterial hypertension Ascites Hepatic steatosis Cirrhosis Hypercholesterolemia Scarring Developmental regression Hepatosplenomegaly Weight loss Splenomegaly Vomiting Fever Hepatomegaly Hyperlipidemia Steatorrhea Abnormality of the nail Adrenal calcification Abnormality of the hair Wide anterior fontanel Everted lower lip vermilion Short distal phalanx of finger Thick eyebrow Broad forehead Sparse hair Mandibular prognathia Bone-marrow foam cells Protuberant abdomen Periportal fibrosis Low-grade fever Vacuolated lymphocytes Hyperlipoproteinemia Foam cells Esophageal varix Acute hepatic failure Abnormality of lipid metabolism Multiple gastric polyps Adenocarcinoma of the colon Abnormal heart morphology Kyphosis Generalized tonic-clonic seizures Generalized hypotonia Skeletal dysplasia Polydactyly Prominent forehead Pes cavus Thrombocytopenia Abnormality of the dentition Eczema Edema Skull asymmetry Periorbital fullness Cutis marmorata Failure to thrive in infancy Lissencephaly Short chin Left ventricular hypertrophy Neutropenia Recurrent otitis media Ventricular hypertrophy Giant platelets Cerebral atrophy Atrial septal defect Abnormality of the skeletal system Short 3rd metacarpal Hyposegmentation of neutrophil nuclei Folate deficiency Median cleft palate Lower limb hypertonia Foot dorsiflexor weakness Ectopic calcification Short 5th metacarpal Abnormality of chromosome segregation Short 4th metacarpal Upper limb undergrowth Acute lymphoblastic leukemia Lower limb hyperreflexia Mild short stature Small nail Dandy-Walker malformation Hepatic vascular malformations Bronchiectasis Agammaglobulinemia Shawl scrotum Bronchitis Combined immunodeficiency Recurrent pneumonia Lymphopenia Sinusitis Otitis media Chronic bronchitis Decreased antibody level in blood Sepsis Neurodegeneration Flat face Pneumonia Hypospadias Immunodeficiency Malar flattening Communicating hydrocephalus Cellular immunodeficiency Bifid uvula Cardiomyopathy Thin vermilion border Severe global developmental delay Hypertrophic cardiomyopathy Coarse facial features Retrognathia Obesity Absent speech Hypertonia Hydrocephalus Abnormality of chromosome stability Hypoplasia of the corpus callosum Short neck Wide nasal bridge Brachydactyly Sensorineural hearing impairment Impaired T cell function Abnormality of neutrophils Decrease in T cell count Absence of labia majora


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Hydrocephalus and Muscle cramps, related diseases and genetic alterations Myopathy and Pneumonia, related diseases and genetic alterations Flexion contracture and Omphalocele, related diseases and genetic alterations Cryptorchidism and Lymphedema, related diseases and genetic alterations