Failure to thrive, and Constipation

Diseases related with Failure to thrive and Constipation

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

Top matches:

A very rare disorder caused by mutation in the SCN11A gene. Affected individuals are unable to experience pain since birth resulting in self-inflicted injuries.

HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY TYPE 7 Is also known as hereditary sensory and autonomic neuropathy with hyperhidrosis and gastrointestinal dysfunction|cip with hyperhidrosis and gastrointestinal dysfunction|hsan with hyperhidrosis and gastrointestinal dysfunction|congenital insensitivity to pain with hyperhid

Related symptoms:

  • Generalized hypotonia
  • Failure to thrive
  • Muscle weakness
  • Pain
  • Motor delay


SOURCES: ORPHANET OMIM MENDELIAN

More info about HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY TYPE 7

Nephrogenic diabetes insipidus is caused by the inability of the renal collecting ducts to absorb water in response to antidiuretic hormone (ADH), also known as arginine vasopressin (AVP ). Approximately 90% of patients are males with the X-linked recessive form, type I (OMIM ), which is caused by mutation in the gene encoding the vasopressin V2 receptor (AVPR2 ). The remaining 10% of patients have the autosomal form, type II, caused by mutation in the AQP2 gene (Morello and Bichet, 2001).Neurogenic, or central, diabetes insipidus (CDI ) is caused by mutation in the gene encoding arginine vasopressin, located on 20p13.

DIABETES INSIPIDUS, NEPHROGENIC, AUTOSOMAL Is also known as diabetes insipidus, nephrogenic, type ii

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Failure to thrive
  • Feeding difficulties


SOURCES: OMIM MENDELIAN

More info about DIABETES INSIPIDUS, NEPHROGENIC, AUTOSOMAL

Epidermolysis bullosa simplex, Dowling-Meara type (EBS-DM) is a basal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by the presence of generalized vesicles and small blisters in grouped or arcuate configuration.

EPIDERMOLYSIS BULLOSA SIMPLEX, GENERALIZED SEVERE Is also known as epidermolysis bullosa simplex, herpetiformis|ebs, generalized severe|epidermolysis bullosa simplex, dowling-meara type

Related symptoms:

  • Failure to thrive
  • Feeding difficulties
  • Constipation
  • Nail dystrophy
  • Palmoplantar keratoderma


SOURCES: ORPHANET MENDELIAN

More info about EPIDERMOLYSIS BULLOSA SIMPLEX, GENERALIZED SEVERE

Other less relevant matches:

Nephrogenic diabetes insipidus (NDI) is characterized by polyuria with polydipsia, recurrent bouts of fever, constipation, and acute hypernatremic dehydration after birth that may cause neurological sequelae. Polyuria may exceed 10 litres in children.

NEPHROGENIC DIABETES INSIPIDUS Is also known as ndi|diabetes insipidus, nephrogenic, type i

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Growth delay


SOURCES: OMIM ORPHANET MENDELIAN

More info about NEPHROGENIC DIABETES INSIPIDUS

Although the phenotypic spectrum and severity of FG syndrome is wide, the cardinal features include congenital hypotonia, delayed speech development, relative macrocephaly, dysmorphic facies, and anal anomalies or severe constipation (Unger et al., 2007).For a general phenotypic description and a discussion of genetic heterogeneity of FG syndrome, see FGS1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Hypertelorism
  • Failure to thrive


SOURCES: OMIM MENDELIAN

More info about FG SYNDROME 2; FGS2

High match MALONIC ACIDURIA

Malonic aciduria is a metabolic disorder caused by deficiency of malonyl-CoA decarboxylase (MCD).

MALONIC ACIDURIA Is also known as malonyl-coa decarboxylase deficiency

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Failure to thrive


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about MALONIC ACIDURIA

Porphyria of doss or deficiency of delta-aminolevulinic acid dehydratase (DALAD) is an extremely rare form of acute hepatic porphyria (see this term) characterized by neuro-visceral attacks without cutaneous manifestations.

PORPHYRIA DUE TO ALA DEHYDRATASE DEFICIENCY Is also known as porphyria due to alad deficiency|doss porphyria|delta-aminolevulinate dehydratase deficiency|alad porphyria|porphyria, alad|porphyria of doss|alad deficiency|porphyria due to delta-aminolevulinate dehydratase deficiency|porphobilinogen synthase deficiency

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Failure to thrive
  • Muscular hypotonia
  • Pain


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about PORPHYRIA DUE TO ALA DEHYDRATASE DEFICIENCY

The association of X-linked Alport syndrome with leiomyomatosis of the esophagus, tracheobronchial tree or female genitals has been reported in more than 30 families.

X-LINKED DIFFUSE LEIOMYOMATOSIS-ALPORT SYNDROME Is also known as xq22.3 microdeletion syndrome|chromosome xq22.3 centromeric deletion syndrome|alport syndrome and diffuse leiomyomatosis|leiomyomatosis, esophageal and vulval, with nephropathy|ats-dl

Related symptoms:

  • Hearing impairment
  • Failure to thrive
  • Sensorineural hearing impairment
  • Cataract
  • Dysphagia


SOURCES: OMIM ORPHANET MENDELIAN

More info about X-LINKED DIFFUSE LEIOMYOMATOSIS-ALPORT SYNDROME

Severe neonatal-onset encephalopathy with microcephaly is a rare monogenic disease with epilepsy characterized by neonatal-onset encephalopathy, microcephaly, severe developmental delay or absent development, breathing abnormalities (including central hypoventilation and/or respiratory insufficiency), intractable seizures, abnormal muscle tone and involuntary movements. Early death is usual.

SEVERE NEONATAL-ONSET ENCEPHALOPATHY WITH MICROCEPHALY Is also known as severe congenital encephalopathy due to mecp2 mutation

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about SEVERE NEONATAL-ONSET ENCEPHALOPATHY WITH MICROCEPHALY

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly


SOURCES: OMIM MENDELIAN

More info about NEURODEVELOPMENTAL DISORDER WITH SPASTICITY AND POOR GROWTH; NEDSG

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

Symptoms // Phenotype % cases
Seizures Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Vomiting Common - Between 50% and 80% cases
Feeding difficulties Common - Between 50% and 80% cases
Intellectual disability Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Global developmental delay Diarrhea Short stature Growth delay Feeding difficulties in infancy Pain

Rare Symptoms - Less than 30% cases

Hypernatremia Megacystis Abdominal pain Microcephaly Muscular hypotonia Spasticity Unexplained fevers Hypertonic dehydration Muscular hypotonia of the trunk Diabetes insipidus Hyperreflexia Nephrogenic diabetes insipidus Respiratory insufficiency Polyuria Dehydration Irritability Fever Polydipsia Chronic constipation Peripheral neuropathy Cough Dysphagia Dyspnea Proteinuria Nephropathy Congenital cataract Stage 5 chronic kidney disease Hematuria Clonus Asthma Skeletal muscle hypertrophy Cataract Oculomotor apraxia Sensorineural hearing impairment Hearing impairment Microscopic hematuria Elevated urinary delta-aminolevulinic acid Abdominal colic Wrist drop Respiratory paralysis Motor axonal neuropathy Hyponatremia Hemiparesis Psychosis Polyneuropathy Sensory neuropathy Hemolytic anemia Tachycardia Wheezing Lenticonus Macroscopic hematuria Abnormality of the cerebral white matter Congenital encephalopathy Abnormal muscle tone Central hypoventilation Hypoventilation Poor eye contact Intellectual disability, progressive Progressive microcephaly Postnatal microcephaly Polymicrogyria Apnea Flexion contracture Rigidity Absent speech EEG abnormality Thickening of the glomerular basement membrane Paresthesia Respiratory failure Myoclonus Encephalopathy Intellectual disability, severe Abnormality of eye movement Delayed myelination Intention tremor Tracheobronchial leiomyomatosis Anterior lenticonus Diffuse leiomyomatosis Diffuse glomerular basement membrane lamellation High-frequency sensorineural hearing impairment Gastroesophageal reflux Hypertrophic cardiomyopathy Behavioral abnormality Milia Enuresis nocturna Hypovolemia Pollakisuria Hydroureter Anorexia Nausea and vomiting Hydronephrosis Polyhydramnios Renal insufficiency Oral mucosal blisters Squamous cell carcinoma of the skin Skin vesicle Atrophic scars Recurrent skin infections Hyposthenuria Hyperpigmentation of the skin Abnormal blistering of the skin Hypopigmentation of the skin Palmoplantar keratoderma Nail dystrophy Pain insensitivity Axonal loss Joint dislocation Abnormal autonomic nervous system physiology Pruritus Hyperhidrosis Dystonia Motor delay Muscle weakness Nocturia Functional abnormality of the bladder Hypertension Underdeveloped superior crus of antihelix Anemia Episodic vomiting Ketosis Poor appetite Hyperammonemia Recurrent urinary tract infections Heterotopia Pachygyria Febrile seizures Metabolic acidosis Lactic acidosis Hypoglycemia Acidosis Cardiomyopathy Frontal upsweep of hair Hypernatremic dehydration Large forehead Anteriorly placed anus Relative macrocephaly Protruding ear Abnormality of the pinna Neonatal hypotonia Hyperactivity Prominent forehead Abnormal heart morphology Frontal bossing Macrocephaly Delayed speech and language development Abnormal facial shape Hypertelorism Poor head control


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Rod-cone dystrophy and Facial asymmetry, related diseases and genetic alterations Ptosis and Abdominal pain, related diseases and genetic alterations Obesity and Postaxial polydactyly, related diseases and genetic alterations Flexion contracture and Severe global developmental delay, related diseases and genetic alterations