Low-set ears, and Vomiting

Diseases related with Low-set ears and Vomiting

In the following list you will find some of the most common rare diseases related to Low-set ears and Vomiting that can help you solving undiagnosed cases.

Top matches:

Francke et al. (1987) noted that there are 3 clinically distinct forms of glycerol kinase deficiency: infantile, juvenile, and adult. The infantile form is associated with severe developmental delay, and those with the adult form have no symptoms and are often detected fortuitously.The infantile form of GK deficiency, or the 'GK complex,' results from the Xp21 contiguous gene deletion syndrome (OMIM ) with congenital adrenal hypoplasia (OMIM ) and/or Duchenne muscular dystrophy (DMD ), whereas the juvenile and adult forms have isolated GK deficiency (Walker et al., 1996).

GLYCEROL KINASE DEFICIENCY; GKD Is also known as gk deficiency|hyperglycerolemia|gk1 deficiency

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about GLYCEROL KINASE DEFICIENCY; GKD

Chronic idiopathic intestinal pseudoobstruction (CIIP) is caused by severe abnormality of gastrointestinal motility. Patients have recurrent symptoms and signs of intestinal obstruction without any mechanical lesion (Auricchio et al., 1996).Some primary forms of CIIP are caused by defects of enteric neuronal cells: see Hirschsprung disease (see, e.g., HSCR1; {142623}) and autosomal recessive visceral neuropathy (OMIM ) (Tanner et al., 1976).

INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CHRONIC IDIOPATHIC, X-LINKED Is also known as intestinal pseudoobstruction, neuronal, chronic idiopathic, with central nervous system involvement|ciipx|ipox|ciip, x-linked|congenital idiopathic intestinal pseudoobstruction|ciip

Related symptoms:

  • Seizures
  • Hypertelorism
  • Failure to thrive
  • Abnormal facial shape
  • Low-set ears


SOURCES: MESH OMIM MENDELIAN

More info about INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CHRONIC IDIOPATHIC, X-LINKED

IDDGIP is an autosomal dominant syndromic neurodevelopmental disorder characterized by delayed psychomotor development, intellectual disability with speech delay, and behavioral abnormalities. Most patients have variable additional features, including feeding and gastrointestinal difficulties, high pain threshold and/or hypersensitivity to sound, and dysmorphic features, including mild facial abnormalities, strabismus, and small hands and feet (summary by Jansen et al., 2017).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about INTELLECTUAL DEVELOPMENTAL DISORDER WITH GASTROINTESTINAL DIFFICULTIES AND HIGH PAIN THRESHOLD; IDDGIP

Other less relevant matches:

Hepatoencephalopathy due to combined oxidative phosphorylation deficiency type 1 is a rare, inherited mitochondrial disorder due to a defect in mitochondrial protein synthesis characterized by intrauterine growth retardation, metabolic decompensation with recurrent vomiting, persistent severe lactic acidosis, encephalopathy, seizures, failure to thrive, severe global developmental delay, poor eye contact, severe muscular hypotonia or axial hypotonia with limb hypertonia, hepatomegaly and/or liver dysfunction and/or liver failure, leading to fatal outcome in severe cases. Neuroimaging abnormalities may include corpus callosum thinning, leukodystrophy, delayed myelination and basal ganglia involvement.

HEPATOENCEPHALOPATHY DUE TO COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 1 Is also known as hepatoencephalopathy, early fatal progressive|hepatoencephalopathy due to coxpd1

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Microcephaly
  • Growth delay
  • Nystagmus


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about HEPATOENCEPHALOPATHY DUE TO COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 1

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

Choroid plexus tumors are of neuroectodermal origin and range from benign choroid plexus papillomas (CPPs) to malignant choroid carcinomas (CPCs). These rare tumors generally occur in childhood, but have also been reported in adults. Patients typically present with signs and symptoms of increased intracranial pressure including headache, hydrocephalus, papilledema, nausea, vomiting, cranial nerve deficits, gait impairment, and seizures (summary by Safaee et al., 2013).

PAPILLOMA OF CHOROID PLEXUS; CPP Is also known as choroid plexus papilloma

Related symptoms:

  • Intellectual disability
  • Seizures
  • Hypertelorism
  • Neoplasm
  • Abnormal facial shape


SOURCES: OMIM MENDELIAN

More info about PAPILLOMA OF CHOROID PLEXUS; CPP

The newly described 2q23.1 microdeletion syndrome includes severe intellectual deficit with pronounced speech delay, behavioral abnormalities including hyperactivity and inappropriate laughter, short stature and seizures.

2Q23.1 MICRODELETION SYNDROME Is also known as pseudo-angelman syndrome|del(2)(q23.1)|monosomy 2q23.1

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about 2Q23.1 MICRODELETION SYNDROME

Mevalonic aciduria (MVA) is a rare, very severe form of mevalonate kinase deficiency (MKD; see this term) characterized by dysmorphic features, failure to thrive, psychomotor delay, ocular involvement, hypotonia, progressive ataxia, myopathy, and recurrent inflammatory episodes.

MEVALONIC ACIDURIA Is also known as mva|complete mevalonate kinase deficiency

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about MEVALONIC ACIDURIA

Familial visceral myopathy is a rare inherited form of myopathic pseudoobstruction, characterized by impaired function of enteric smooth muscle cells resulting in abnormal intestinal mobility, severe abdominal pain, malnutrition, and even death (Lehtonen et al., 2012). Visceral myopathy represents a phenotypic spectrum of disease characterized by inter- and intrafamilial variability, in which the most severely affected patients exhibit prenatal bladder enlargement, intestinal malrotation, neonatal functional gastrointestinal obstruction, and chronic dependence on total parenteral nutrition (TPN) and urinary catheterization (summary by Wangler et al., 2014).Another form of visceral myopathy with functional gastrointestinal obstruction is associated with external ophthalmoplegia (OMIM ).Functional gastrointestinal obstruction also occurs in association with other abnormalities, such as 'prune belly' syndrome (OMIM ) and Barrett esophagus (Mungan syndrome; {611376}). Chronic intestinal pseudoobstruction can also be neuropathic in origin (see {609629}).

VISCERAL MYOPATHY; VSCM Is also known as megacystis-microcolon-intestinal hypoperistalsis syndrome|infantile visceral myopathy|mmih|megaduodenum and/or megacystis|pseudoobstruction, idiopathic intestinal|berdon syndrome

Related symptoms:

  • Microcephaly
  • Failure to thrive
  • Micrognathia
  • Cleft palate
  • Pain


SOURCES: OMIM MENDELIAN

More info about VISCERAL MYOPATHY; VSCM

Feingold syndrome is an autosomal dominant disorder characterized by variable combinations of microcephaly, limb malformations, esophageal and duodenal atresias, and learning disability/mental retardation. Hand and foot abnormalities may include hypoplastic thumbs, clinodactyly of second and fifth fingers, syndactyly (characteristically between second and third and fourth and fifth toes), and shortened or absent middle phalanges. Cardiac and renal malformations, vertebral anomalies, and deafness have also been described in a minority of patients (summary by Teszas et al., 2006). Genetic Heterogeneity of Feingold SyndromeFeingold syndrome-2 (FGLDS2 ) is caused by hemizygous deletion of the MIR17HG gene (OMIM ) on chromosome 13q31.3.

FEINGOLD SYNDROME 1; FGLDS1 Is also known as digital anomalies with short palpebral fissures and atresia of esophagus or duodenum|microcephaly, mental retardation, and tracheoesophageal fistula syndrome|oded syndrome|mmt syndrome|oculodigitoesophagoduodenal syndrome|moded|feingold syndrome|microceph

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about FEINGOLD SYNDROME 1; FGLDS1

Top 5 symptoms//phenotypes associated to Low-set ears and Vomiting

Symptoms // Phenotype % cases
Seizures Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Microcephaly Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Low-set ears and Vomiting. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Hypertelorism Abnormal facial shape Metabolic acidosis Micrognathia Acidosis Fever Generalized hypotonia Cryptorchidism Feeding difficulties Posteriorly rotated ears High palate Constipation Intestinal malrotation Abdominal distention Broad forehead Pain Hydronephrosis Small hand Abnormality of the liver Failure to thrive Polyhydramnios Low-set, posteriorly rotated ears Anteverted nares Growth delay Strabismus Diarrhea Myopathy

Rare Symptoms - Less than 30% cases

Motor delay Toe syndactyly Atrial septal defect Behavioral abnormality Ataxia Clinodactyly Hyperactivity Autism Gastroesophageal reflux Thin upper lip vermilion Everted lower lip vermilion Clinodactyly of the 5th finger Autistic behavior Depressed nasal bridge Wide mouth Lactic acidosis Encephalopathy Triangular face Cleft palate Wide nasal bridge Hypermetropia Aggressive behavior Short foot Syndactyly Hepatomegaly Facial asymmetry Epicanthus Nystagmus Single transverse palmar crease Myopia Patent ductus arteriosus Frontal bossing Pneumonia Hypoglycemia Downturned corners of mouth Loss of consciousness Finger clinodactyly Abnormality of digit Abdominal pain Brachydactyly Hypertension Peripheral neuropathy Downslanted palpebral fissures Thrombocytopenia Muscular hypotonia Feeding difficulties in infancy Aganglionic megacolon Delayed speech and language development Intestinal obstruction Anal atresia Choanal atresia Volvulus Intestinal pseudo-obstruction Joint stiffness Arachnodactyly Normocytic anemia Extramedullary hematopoiesis Narrow chest Ophthalmoplegia Prominent nasal bridge Therapeutic abortion Abnormality of cardiovascular system morphology Umbilical hernia Hypoplastic anemia Weight loss Fluctuating splenomegaly Dilatation Dysphagia Chronic leukemia Glutathione synthetase deficiency Morbilliform rash Normocytic hypoplastic anemia Fluctuating hepatomegaly Skeletal muscle atrophy Retinal dystrophy Agenesis of cerebellar vermis Cerebral atrophy Hepatosplenomegaly Arthralgia Kyphoscoliosis Cerebral cortical atrophy Delayed skeletal maturation Elevated serum creatine phosphokinase Obesity Splenomegaly Abnormality of the nervous system Cerebellar atrophy Edema Optic atrophy Anemia Cataract Abnormality of lower lip Paroxysmal bursts of laughter Elevated hepatic transaminase Skin rash Cholestatic liver disease Blue sclerae Organic aciduria Nuclear cataract Severe failure to thrive Petechiae Leukocytosis Large fontanelles Clumsiness Underdeveloped nasal alae Leukemia Aciduria Nevus Progressive cerebellar ataxia Round face Lymphadenopathy Malabsorption Dolichocephaly Vesicoureteral reflux Urethral obstruction Overgrowth Abnormality of the hand Prominent occiput Hallux valgus 2-3 toe syndactyly Short middle phalanx of finger Tracheoesophageal fistula Nephritis Narrow palpebral fissure External ear malformation Short toe Abnormal vertebral morphology Short thumb Abnormal form of the vertebral bodies Short palpebral fissure Decreased fetal movement Specific learning disability Esophageal atresia Vocal cord paralysis Oral cleft Frontal balding Aplasia/Hypoplasia of the middle phalanx of the 5th finger Aplasia/Hypoplasia of the middle phalanx of the 2nd finger 4-5 toe syndactyly Small anterior fontanelle Annular pancreas Aplasia of the middle phalanx of the hand Accessory spleen Depressed nasal tip Intestinal atresia Periorbital fullness Abnormality of the spleen Duodenal atresia Asplenia Polysplenia Short 5th finger Thick vermilion border Finger syndactyly Interphalangeal joint contracture of finger Hydroureter Peritonitis Achalasia Chronic constipation Episodic abdominal pain Hyperparathyroidism Disproportionate tall stature Anonychia Abdominal situs inversus Malnutrition Portal hypertension Hypoalbuminemia External ophthalmoplegia Pancreatitis Horseshoe kidney Recurrent urinary tract infections Aplasia/Hypoplasia of the abdominal wall musculature Urinary retention Blepharophimosis Megaduodenum Macrotia Upslanted palpebral fissure Renal insufficiency Cognitive impairment Sensorineural hearing impairment Hearing impairment Hypoperistalsis Pollakisuria Gastrointestinal obstruction Neuroma Barrett esophagus Macrodontia Megacystis Prune belly Microcolon Hemifacial hypoplasia Gait ataxia Short attention span Basal ganglia cysts Cardiomyopathy Hypertonia Muscular hypotonia of the trunk Delayed myelination Increased serum lactate Bradykinesia Cholestasis Decreased liver function Global brain atrophy Hypokinesia Poor eye contact Progressive encephalopathy Increased CSF lactate Fulminant hepatic failure Macrocephaly Respiratory insufficiency Mild short stature Protracted diarrhea Ureteral duplication Villous atrophy Rectovaginal fistula Optic nerve coloboma Corneal erosion Preauricular pit Abnormality of metabolism/homeostasis Keratitis Hyponatremia Cutis laxa Abnormal intestine morphology Gastrointestinal hemorrhage Bifid uvula Hypoplasia of the corpus callosum Intrauterine growth retardation Intractable diarrhea Hyperlipidemia Congenital adrenal hypoplasia Episodic vomiting Adrenal hypoplasia Ketoacidosis Pathologic fracture Adrenal insufficiency Hypertriglyceridemia Increased urinary glycerol Coma Lethargy Muscular dystrophy Small for gestational age Diabetes mellitus Osteoporosis Adrenocortical hypoplasia Hyperglycerolemia Hyperreflexia Anxiety Spasticity Obsessive-compulsive behavior Broad-based gait Small nail Attention deficit hyperactivity disorder Hyperlordosis Increased size of the mandible Smooth philtrum Congenital shortened small intestine Increased mean platelet volume Arthropathy Multiple lipomas Spastic diplegia Pyloric stenosis Secretory diarrhea Neoplasm Polyphagia Epileptic encephalopathy Protruding ear Microtia Synophrys Astigmatism Bulbous nose Thick eyebrow Short palm Highly arched eyebrow Sleep disturbance Prominent nose Esotropia Focal-onset seizure Febrile seizures Hip dysplasia Hypoplasia of penis EEG abnormality Widely spaced teeth Cupped ear Self-injurious behavior Language impairment Focal impaired awareness seizure Tented upper lip vermilion Infantile muscular hypotonia Sandal gap Open mouth Absence seizures Short chin Generalized hirsutism Low anterior hairline Stereotypy Dental crowding Postnatal growth retardation Coarse facial features Abnormality of the skeletal system Micropenis Macroglossia Delayed eruption of teeth Nausea Apnea Carcinoma High forehead Respiratory failure Sleep apnea Depressivity Midface retrusion Recurrent infections Headache Hydrocephalus Talipes equinovarus Hypertrichosis Increased intracranial pressure Retrognathia Choroid plexus carcinoma Brachycephaly Malar flattening Short nose Intellectual disability, severe Visual impairment Ptosis Choroid plexus papilloma Upper limb undergrowth Papilloma Osteosarcoma Broad ribs Choanal stenosis Broad neck Papilledema Deviation of the 2nd finger


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