Failure to thrive, and Obesity

Diseases related with Failure to thrive and Obesity

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

Top matches:

BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 9; BMIQ9 Is also known as obesity, susceptibility to

Related symptoms:

  • Obesity


SOURCES: OMIM MENDELIAN

More info about BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 9; BMIQ9

BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 18; BMIQ18 Is also known as obesity, susceptibility to

Related symptoms:

  • Obesity


SOURCES: OMIM MENDELIAN

More info about BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 18; BMIQ18

Transient infantile hypertriglyceridemia and hepatosteatosis is a rare, genetic, hepatic disease characterized by massive hepatomegaly, moderate to severe, transient hypertriglyceridemia and hepatic steatosis (followed by fibrosis), manifesting in infancy with failure to thrive, vomiting, an enlarged abdomen and a fatty liver. Reduction or normalization of triglyceride serum levels occurs with advancing age.

TRANSIENT INFANTILE HYPERTRIGLYCERIDEMIA AND HEPATOSTEATOSIS Is also known as transient infantile hypertriglyceridemia and fatty liver

Related symptoms:

  • Short stature
  • Failure to thrive
  • Hepatomegaly
  • Vomiting
  • Splenomegaly


SOURCES: OMIM ORPHANET MENDELIAN

More info about TRANSIENT INFANTILE HYPERTRIGLYCERIDEMIA AND HEPATOSTEATOSIS

Other less relevant matches:

3-Phosphoserine phosphatase deficiency is an extremely rare form of serine deficiency syndrome (see this term) characterized clinically by congenital microcephaly and severe psychomotor retardation in the single reported case to date, which was associated with Williams syndrome (see this term).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Microcephaly
  • Growth delay


SOURCES: ORPHANET OMIM MENDELIAN

More info about 3-PHOSPHOSERINE PHOSPHATASE DEFICIENCY

BBS11 was diagnosed in members of a single Israeli Bedouin family based on the presence of at least 3 of the following features: obesity, polydactyly, renal anomalies, retinopathy, hypogonadism, and learning disabilities (Chiang et al., 2006).For a general phenotypic description and a discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 (OMIM ).

Related symptoms:

  • Obesity
  • Hypogonadism
  • Polydactyly
  • Abnormality of the kidney
  • Retinopathy


SOURCES: OMIM MENDELIAN

More info about BARDET-BIEDL SYNDROME 11; BBS11

Intellectual disability-severe speech delay-mild dysmorphism syndrome is a rare, genetic, syndromic intellectual disability disorder, with highly variable phenotype, typically characterized by mild to severe global development delay, severe speech and language impairment, mild to severe intellectual disability, dysphagia, hypotonia, relative to true macrocephaly, and behavioral problems that may include autistic features, hyperactivity, and mood lability. Facial gestalt typically features a broad, prominent forehead, hypertelorism, downslanting palpebral fissures, ptosis, a short bulbous nose with broad tip, thick vermilion border, wide, and open mouth with downturned corners. Brain, cardiac, urogenital and ocular malformations may be associated.

INTELLECTUAL DISABILITY-SEVERE SPEECH DELAY-MILD DYSMORPHISM SYNDROME Is also known as foxp1 syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Hypertelorism
  • Nystagmus


SOURCES: ORPHANET OMIM MENDELIAN

More info about INTELLECTUAL DISABILITY-SEVERE SPEECH DELAY-MILD DYSMORPHISM SYNDROME

Xq27.3q28 duplication syndrome is a recently described syndrome characterized by short stature, hypogonadism, developmental delay and facial dysmorphism.

XQ27.3Q28 DUPLICATION SYNDROME Is also known as trisomy xq27.3q28|dup(x)(q27.3q28)|xq27.3-q28 microduplication syndrome|trisomy xq27.3-q28

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Growth delay


SOURCES: OMIM ORPHANET MENDELIAN

More info about XQ27.3Q28 DUPLICATION SYNDROME

Pro-opiomelanocortin (POMC) deficiency is a form of monogenic obesity resulting in severe early-onset obesity, adrenal insufficiency, red hair and pale skin.

OBESITY DUE TO PRO-OPIOMELANOCORTIN DEFICIENCY Is also known as pomc deficiency|proopiomelanocortin deficiency

Related symptoms:

  • Seizures
  • Growth delay
  • Failure to thrive
  • Hepatomegaly
  • Obesity


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about OBESITY DUE TO PRO-OPIOMELANOCORTIN DEFICIENCY

Fatal infantile lactic acidosis with methylmalonic aciduria is a rare neurometabolic disease characterized by infantile onset of severe encephalomyopathy, lactic acidosis and elevated methylmalonic acid urinary excretion. Clinically it manifests with severe psychomotor delay, hypotonia, failure to thrive, feeding difficulties and dystonia. Epilepsy and multiple congenital anomalies may be associated.

FATAL INFANTILE LACTIC ACIDOSIS WITH METHYLMALONIC ACIDURIA Is also known as lactic acidosis, fatal infantile, formerly

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about FATAL INFANTILE LACTIC ACIDOSIS WITH METHYLMALONIC ACIDURIA

Prohormone convertase-I deficiency is the rarest form of monogenic obesity. The disorder is characterised by severe childhood obesity, hypoadrenalism, reactive hypoglycaemia, and elevated circulating levels of certain prohormones.

OBESITY DUE TO PROHORMONE CONVERTASE I DEFICIENCY Is also known as obesity and endocrinopathy due to impaired processing of prohormones|pci deficiency

Related symptoms:

  • Growth delay
  • Failure to thrive
  • Diarrhea
  • Obesity
  • Delayed skeletal maturation


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about OBESITY DUE TO PROHORMONE CONVERTASE I DEFICIENCY

Top 5 symptoms//phenotypes associated to Failure to thrive and Obesity

Symptoms // Phenotype % cases
Growth delay Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Delayed skeletal maturation Uncommon - Between 30% and 50% cases
Generalized hypotonia Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Hypogonadism Seizures Hypoglycemia

Rare Symptoms - Less than 30% cases

Decreased circulating cortisol level Hyperinsulinemia Muscular hypotonia Central adrenal insufficiency Hypoglycemic seizures Hepatomegaly Red hair Gonadotropin deficiency Pituitary hypothyroidism Acidosis Polyphagia Childhood-onset truncal obesity Increased adipose tissue Acanthosis nigricans Cerebral atrophy Intrauterine growth retardation Short stature Cholestasis Growth hormone deficiency Hypopigmentation of the skin Delayed puberty Increased body weight Muscle weakness Skeletal muscle atrophy Ataxia Hearing impairment Abnormal eating behavior Respiratory insufficiency Feeding difficulties Polydipsia Adrenocorticotropic hormone deficiency Intellectual disability, severe Adrenal hypoplasia Neonatal hypoglycemia Adrenal insufficiency Hyponatremia Hyperbilirubinemia Hepatic failure Cardiomyopathy Hyperhidrosis Dystonia Hypothyroidism Episodic metabolic acidosis Renal aminoaciduria Intermittent hyperpnea at rest Villous atrophy Diarrhea Diabetes mellitus Malabsorption Poor motor coordination Maternal diabetes Amenorrhea Diabetes insipidus Glucose intolerance Polyuria Primary amenorrhea Hypothalamic hypothyroidism Necrotizing encephalopathy Encephalopathy Lactic acidosis Hypogonadotrophic hypogonadism Respiratory failure Abnormality of the nervous system Muscular hypotonia of the trunk Mental deterioration Unsteady gait Metabolic acidosis Methylmalonic aciduria Aciduria Abnormality of the skin Progressive neurologic deterioration Shock Hypophosphatemia Muscle fibrillation Severe lactic acidosis Severe global developmental delay Truncal obesity Weight loss Short nose Nystagmus Strabismus Delayed speech and language development Macrocephaly Downslanted palpebral fissures Behavioral abnormality Prominent forehead Retinopathy Hyperactivity Autism Retrognathia Anxiety Aggressive behavior Intellectual disability, moderate Hypertelorism Abnormality of the kidney Attention deficit hyperactivity disorder Hypertriglyceridemia Vomiting Splenomegaly Elevated hepatic transaminase Abnormality of the liver Hepatic steatosis Abnormality of the cardiovascular system Hepatic fibrosis Polydactyly Pancreatitis Microcephaly Hypertonia Postnatal growth retardation Brain atrophy Absence seizures Irritability Broad forehead Agenesis of corpus callosum Hypergonadotropic hypogonadism Bulbous nose Small hand Short foot Decreased testicular size Specific learning disability Gynecomastia Premature ovarian insufficiency Small for gestational age High pitched voice Sparse body hair Increased circulating gonadotropin level Decreased serum testosterone level Abdominal obesity Primary testicular failure Thin vermilion border Neonatal hypotonia Poor speech Delayed gross motor development Broad nasal tip Delayed myelination Apraxia Open mouth Stereotypy Drooling Relative macrocephaly Deeply set eye Language impairment Delayed ability to walk Large forehead Speech apraxia Abnormal facial shape Cryptorchidism Intellectual disability, mild Reactive hypoglycemia


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