Growth delay, and Intestinal malrotation

Diseases related with Growth delay and Intestinal malrotation

In the following list you will find some of the most common rare diseases related to Growth delay and Intestinal malrotation that can help you solving undiagnosed cases.

Top matches:

Hypoplastic pancreas-intestinal atresia-hypoplastic gallbladder syndrome is a rare, potentially fatal, genetic, visceral malformation syndrome characterized by neonatal diabetes, hypoplastic or annular pancreas, duodenal and jejunal atresia, as well as gallbladder aplasia or hypoplasia. Patients typically present intrauterine growth restriction, failure to thrive, malnutrition, intestinal malrotation, malabsorption, conjugated hyperbilirubinemia, acholia and infections. Cardiac anomalies may also be associated.

HYPOPLASTIC PANCREAS-INTESTINAL ATRESIA-HYPOPLASTIC GALLBLADDER SYNDROME Is also known as diabetes, neonatal, with pancreatic hypoplasia, intestinal atresia, and gallbladder aplasia or hypoplasia

Related symptoms:

  • Growth delay
  • Anemia
  • Intrauterine growth retardation
  • Diarrhea
  • Diabetes mellitus


SOURCES: ORPHANET OMIM MENDELIAN

More info about HYPOPLASTIC PANCREAS-INTESTINAL ATRESIA-HYPOPLASTIC GALLBLADDER SYNDROME

Congenital short bowel syndrome is a rare intestinal disorder of neonates of unknown etiology. Patients are born with a short small bowel (less than 75 cm in length) that compromises proper intestinal absorption and leads chronic diarrhea, vomiting and failure to thrive.

Related symptoms:

  • Short stature
  • Failure to thrive
  • Cognitive impairment
  • Vomiting
  • Diarrhea


SOURCES: ORPHANET OMIM MENDELIAN

More info about CONGENITAL SHORT BOWEL SYNDROME

Low match SERKAL SYNDROME

SERKAL (SEx Reversion, Kidneys, Adrenal and Lung dysgenesis) syndrome is characterised by female to male sex reversal and developmental anomalies of the kidneys, adrenal glands and lungs.

SERKAL SYNDROME Is also known as serkal syndrome|sex reversion-kidneys, adrenal and lung dysgenesis syndrome

Related symptoms:

  • Growth delay
  • Cleft palate
  • Low-set ears
  • Intrauterine growth retardation
  • Ventricular septal defect


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about SERKAL SYNDROME

Other less relevant matches:

Congenital heart defects and skeletal malformations syndrome (CHDSKM) is characterized by atrial and ventricular septal defects, with aortic root dilation in adulthood. Skeletal defects are variable and include pectus excavatum, scoliosis, and finger contractures, and some patient exhibit joint laxity. Failure to thrive is observed during infancy and early childhood (Wang et al., 2017).

Related symptoms:

  • Scoliosis
  • Failure to thrive
  • Abnormal facial shape
  • Flexion contracture
  • Intrauterine growth retardation


SOURCES: OMIM MENDELIAN

More info about CONGENITAL HEART DEFECTS AND SKELETAL MALFORMATIONS SYNDROME; CHDSKM

COMBINED IMMUNODEFICIENCY-ENTEROPATHY SPECTRUM Is also known as cid-mia/early-onset ibd

Related symptoms:

  • Intrauterine growth retardation
  • Ventricular septal defect
  • Immunodeficiency
  • Polyhydramnios
  • Sparse hair


SOURCES: ORPHANET MENDELIAN

More info about COMBINED IMMUNODEFICIENCY-ENTEROPATHY SPECTRUM

1q44 microdeletion syndrome is a newly described syndrome associated with facial dysmorphism, developmental delay, in particular of expressive speech, seizures and hypotonia.

1Q44 MICRODELETION SYNDROME Is also known as del(1)(q44)|monosomy 1q44

Related symptoms:

  • Global developmental delay
  • Short stature
  • Microcephaly
  • Scoliosis
  • Growth delay


SOURCES: ORPHANET MENDELIAN

More info about 1Q44 MICRODELETION SYNDROME

DIARRHEA 3, SECRETORY SODIUM, CONGENITAL, WITH OR WITHOUT OTHER CONGENITAL ANOMALIES; DIAR3 Is also known as diarrhea 3, secretory sodium, congenital, syndromic|csd|sodium diarrhea, congenital

Related symptoms:

  • Short stature
  • Hypertelorism
  • Micrognathia
  • Cleft palate
  • Low-set ears


SOURCES: OMIM MENDELIAN

More info about DIARRHEA 3, SECRETORY SODIUM, CONGENITAL, WITH OR WITHOUT OTHER CONGENITAL ANOMALIES; DIAR3

Multiple intestinal atresia is a rare form of intestinal atresia characterized by the presence of numerous atresic segments in the small bowel (duodenum) or large bowel and leading to symptoms of intestinal obstruction: vomiting, abdominal bloating and inability to pass meconium in newborns.

MULTIPLE INTESTINAL ATRESIA Is also known as intestinal atresia, multiple|minat|intestinal atresia, multiple and/or inflammatory bowel disease with or without immunodeficiency|fipa|familial intestinal polyatresia syndrome

Related symptoms:

  • Growth delay
  • Anemia
  • Intrauterine growth retardation
  • Abnormality of the skeletal system
  • Ventricular septal defect


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about MULTIPLE INTESTINAL ATRESIA

Low match IVIC SYNDROME

IVIC syndrome is a very rare genetic malformation syndrome characterized by upper limb anomalies (radial ray defects, carpal bone fusion), extraocular motor disturbances, and congenital bilateral non-progressive mixed hearing loss.

IVIC SYNDROME Is also known as oculo-oto-radial syndrome|oculootoradial syndrome|oors|radial ray defects, hearing impairment, external ophthalmoplegia, and thrombocytopenia

Related symptoms:

  • Hearing impairment
  • Scoliosis
  • Growth delay
  • Strabismus
  • Thrombocytopenia


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about IVIC SYNDROME

Related symptoms:

  • Global developmental delay
  • Short stature
  • Microcephaly
  • Cleft palate
  • Ptosis


SOURCES: OMIM MENDELIAN

More info about CORNELIA DE LANGE SYNDROME 4; CDLS4

Top 5 symptoms//phenotypes associated to Growth delay and Intestinal malrotation

Symptoms // Phenotype % cases
Intrauterine growth retardation Uncommon - Between 30% and 50% cases
Diarrhea Uncommon - Between 30% and 50% cases
Anal atresia Uncommon - Between 30% and 50% cases
Abdominal distention Uncommon - Between 30% and 50% cases
Short stature Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Growth delay and Intestinal malrotation. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Ventricular septal defect Intestinal atresia Scoliosis Polyhydramnios Cleft palate Sepsis

Rare Symptoms - Less than 30% cases

Sparse hair Psoriasiform dermatitis Type I diabetes mellitus Thickened skin Omphalocele Hepatitis Nail dystrophy Autoimmunity Synophrys Absent eyebrow Immunodeficiency Cutis marmorata Finger clinodactyly Rectovaginal fistula Abnormal cardiac septum morphology Short nose Abnormality of the skeletal system Radioulnar synostosis Abnormal intestine morphology Autoimmune hemolytic anemia Upslanted palpebral fissure Congenital cystic adenomatoid malformation of the lung Strabismus Micrognathia Hypertelorism Microcephaly Global developmental delay Smooth philtrum Abnormality of the ductus choledochus Peritoneal abscess Gastrointestinal atresia Hashimoto thyroiditis Jejunoileal ulceration Anemia Bloody diarrhea Wide nasal bridge Syndactyly Hypoplasia of the thymus Severe combined immunodeficiency Alopecia of scalp Ectopic calcification Rectal abscess Low-set ears Malabsorption Hemivertebrae Gastroesophageal reflux Vomiting Failure to thrive Jejunal atresia Duodenal atresia Gastrointestinal hemorrhage Acidosis Small for gestational age Intractable diarrhea Alopecia Macrocephaly Scarring Hyperbilirubinemia Exaggerated cupid's bow Hemolytic anemia Protracted diarrhea Decreased antibody level in blood Lymphopenia Inflammation of the large intestine Optic disc hypoplasia Combined immunodeficiency Thyroiditis Abnormality of abdomen morphology Secretory diarrhea Ureteral duplication Abnormality of the liver Hyponatremia Toe syndactyly Single transverse palmar crease Metabolic acidosis Bifid uvula Choanal atresia Ascites Cutis laxa Keratitis Villous atrophy Preauricular pit Mild short stature Abnormality of digit Corneal erosion Duodenal stenosis Optic nerve coloboma Abnormality of metabolism/homeostasis Hematochezia Microcolon Biparietal narrowing Hyperactivity Limited interphalangeal movement Pectoralis major hypoplasia Hypoplasia of deltoid muscle Ptosis Brachydactyly Anteverted nares Long philtrum Clinodactyly Clinodactyly of the 5th finger Thin upper lip vermilion Small thenar eminence Attention deficit hyperactivity disorder Pectus carinatum Thick eyebrow Highly arched eyebrow Short femoral neck Slender finger Submucous cleft hard palate Exostoses Vertebral clefting Limited wrist movement Aplastic clavicle Decreased proportion of CD8-positive T cells Hypoplasia of the radius Hearing impairment Thrombocytopenia Arrhythmia Severe short stature Joint stiffness Ectodermal dysplasia Short thumb External ophthalmoplegia Abnormal dermatoglyphics Diabetes mellitus Limited elbow movement Triphalangeal thumb Preaxial hand polydactyly Leukocytosis Right bundle branch block Bundle branch block Absent thumb Synostosis of carpal bones Carpal synostosis Short 1st metacarpal Carpal bone hypoplasia Prominent metopic ridge Thin vermilion border Horseshoe kidney Carious teeth Pectus excavatum Abnormal heart morphology Constipation Deeply set eye Joint laxity Camptodactyly Congenital shortened small intestine Broad forehead Displacement of the external urethral meatus Atrial septal defect Arachnodactyly Coarctation of aorta Thin skin Abnormality of the genital system Dental crowding Pointed chin Absent hand Short chin Intestinal hypoplasia Decreased intestinal transit time Long nose Pulmonary artery stenosis Hypospadias Cleft lip Pulmonic stenosis Oral cleft Pulmonary hypoplasia Renal agenesis Oligohydramnios Congenital diaphragmatic hernia Sex reversal Flexion contracture Abnormality of the adrenal glands Abnormality of the penis Ovotestis Hypoplasia of the bladder Bilateral lung agenesis Malrotation of small bowel Adrenal gland agenesis Abnormal peristalsis Abnormal facial shape Gastroparesis Narrow nose Preauricular skin tag Hydrocephalus Severe intrauterine growth retardation Iron deficiency anemia Muscular hypotonia High palate Delayed speech and language development Epicanthus Frontal bossing Ventriculomegaly Intellectual disability, severe Maternal diabetes Agenesis of corpus callosum Anteriorly placed anus High forehead Telecanthus Generalized tonic-clonic seizures Tracheoesophageal fistula Hyperglycemia Abnormality of cardiovascular system morphology Vesicoureteral reflux Ketoacidosis Recurrent abscess formation Soft skin Chronic diarrhea Narrow maxilla Volvulus Lipoatrophy Steatorrhea Malnutrition Dextrocardia Pyloric stenosis Increased body weight Aganglionic megacolon Biliary atresia Hepatic failure Hypotrichosis Cognitive impairment Acholic stools Diabetic ketoacidosis Annular pancreas Absent gallbladder Meckel diverticulum Pancreatic hypoplasia Prominent eyelashes


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