Abnormal facial shape, and Vomiting

Diseases related with Abnormal facial shape and Vomiting

In the following list you will find some of the most common rare diseases related to Abnormal facial shape and Vomiting that can help you solving undiagnosed cases.


Top matches:

Low match MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 5; MC3DN5


Related symptoms:

  • Abnormal facial shape
  • Cognitive impairment
  • Feeding difficulties
  • Epicanthus
  • Vomiting


SOURCES: OMIM MENDELIAN

More info about MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 5; MC3DN5

Low match AUTOSOMAL RECESSIVE INFANTILE HYPERCALCEMIA


Autosomal recessive infantile hypercalcemia is a rare, genetic, phosphocalcic metabolism disorder characterized by early-onset hypercalcemia, hypophosphatemia, hypercalciuria, decreased intact parathyroid hormone serum levels and medullary nephrocalcinosis, typically manifesting with failure to thrive, hypotonia, vomiting, constipation and/or polyuria.

AUTOSOMAL RECESSIVE INFANTILE HYPERCALCEMIA Is also known as familial infantile hypercalcemia with suppressed intact parathyroid hormone|hypercalcemia, idiopathic, of infancy

Related symptoms:

  • Intellectual disability
  • Generalized hypotonia
  • Failure to thrive
  • Muscular hypotonia
  • Vomiting


SOURCES: ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL RECESSIVE INFANTILE HYPERCALCEMIA

Low match ROLANDIC EPILEPSY


Rolandic epilepsy (RE) is a focal childhood epilepsy characterized by seizures consisting of unilateral facial sensory-motor symptoms, with electroencephalogram (EEG) showing sharp biphasic waves over the rolandic region. It is an age-related epilepsy, with excellent outcome.

ROLANDIC EPILEPSY Is also known as becrs|bre|benign rolandic epilepsy|bects|centrotemporal epilepsy|benign epilepsy of childhood with centrotemporal spikes|benign familial epilepsy of childhood with rolandic spikes

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Microcephaly
  • Abnormal facial shape


SOURCES: ORPHANET OMIM MENDELIAN

More info about ROLANDIC EPILEPSY

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Other less relevant matches:

Low match GLYCEROL KINASE DEFICIENCY; GKD


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

Low match INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CHRONIC IDIOPATHIC, X-LINKED


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

Low match GASTROINTESTINAL STROMAL TUMOR


Gastrointestinal stromal tumor (GIST) is the most common mesenchymal neoplasm of the gastrointestinal (GI) tract, typically presenting in adults over the age of 40 (mean age 63), and only rarely in children, in various regions of the GI tract, most commonly the stomach or small intestine but also less commonly in the esophagus, appendix, rectum and colon. GISTs can be asymptomatic or present with various non-specific signs, depending on the location and size of tumor, such as loss of appetite, anemia, weight loss, fatigue, abdominal discomfort or fullness, nausea, vomiting, as well as an abdominal mass, blood in stool, and intestinal obstruction. GISTs can also be seen in familial syndromes such as Carney triad and neurofibromatosis type 1.

GASTROINTESTINAL STROMAL TUMOR Is also known as gastrointestinal stromal sarcoma|gist

Related symptoms:

  • Neoplasm
  • Pain
  • Anemia
  • Fever
  • Fatigue


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about GASTROINTESTINAL STROMAL TUMOR

Low match PELIZAEUS-MERZBACHER-LIKE DISEASE DUE TO AIMP1 MUTATION


Autosomal recessive hypomyelinating leukodystrophy-3 (HLD3) is a severe neurologic disorder characterized by early infantile onset of global developmental delay, lack of development, lack of speech acquisition, and peripheral spasticity associated with decreased myelination in the central nervous system (summary by Feinstein et al., 2010).The disorder is phenotypically similar to X-linked Pelizaeus-Merzbacher disease (PMD ), which is caused by mutation in the PLP1 gene (OMIM ). For a general phenotypic description and a discussion of genetic heterogeneity of HLD, see {312080}.

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about PELIZAEUS-MERZBACHER-LIKE DISEASE DUE TO AIMP1 MUTATION

Low match INTELLECTUAL DEVELOPMENTAL DISORDER WITH GASTROINTESTINAL DIFFICULTIES AND HIGH PAIN THRESHOLD; IDDGIP


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

Low match OSTEOPETROSIS, AUTOSOMAL RECESSIVE 8; OPTB8


Related symptoms:

  • Failure to thrive
  • Strabismus
  • Anemia
  • Feeding difficulties
  • Hepatomegaly


SOURCES: OMIM MENDELIAN

More info about OSTEOPETROSIS, AUTOSOMAL RECESSIVE 8; OPTB8

Low match NEURODEGENERATION DUE TO 3-HYDROXYISOBUTYRYL-COA HYDROLASE DEFICIENCY


Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency is characterised by delayed motor development, hypotonia and progressive neurodegeneration. To date, it has been described in four boys. The syndrome is caused by mutations affecting the two alleles of the HIBCH gene, encoding 3-hydroxyisobutyryl-CoA hydrolase. The mode of transmission has not yet been established.

NEURODEGENERATION DUE TO 3-HYDROXYISOBUTYRYL-COA HYDROLASE DEFICIENCY Is also known as beta-hydroxyisobutyryl coa deacylase deficiency|valine metabolic defect|methacrylic aciduria|hibch deficiency|methacrylic acid toxicity

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Ataxia
  • Nystagmus


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about NEURODEGENERATION DUE TO 3-HYDROXYISOBUTYRYL-COA HYDROLASE DEFICIENCY

Top 5 symptoms//phenotypes associated to Abnormal facial shape and Vomiting

Symptoms // Phenotype % cases
Intellectual disability Uncommon - Between 30% and 50% cases
Seizures Uncommon - Between 30% and 50% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Acidosis Uncommon - Between 30% and 50% cases
Generalized hypotonia Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Abnormal facial shape and Vomiting. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Metabolic acidosis Strabismus Failure to thrive Feeding difficulties Anemia Low-set ears Lethargy Myoclonus Abdominal distention Brain atrophy

Rare Symptoms - Less than 30% cases


Microcephaly Hypoplasia of the corpus callosum Hypertonia Coarse facial features Constipation Nystagmus Clonus Intestinal obstruction Pain Short stature Hypertelorism Cryptorchidism Frontal bossing Optic atrophy Fever Ventriculomegaly Thrombocytopenia Cerebral atrophy Increased serum lactate Abnormality of the liver Muscular hypotonia of the trunk Muscular hypotonia Weight loss Hypoglycemia Dystonia Epicanthus Atrial septal defect Hyperactivity Visual impairment Posteriorly rotated ears Rotary nystagmus Behavioral abnormality Progressive spastic paraparesis Flexion contracture Delayed speech and language development Anteverted nares Myopia Progressive flexion contractures Rapid neurologic deterioration Brachydactyly Sudanophilic leukodystrophy Diffuse cerebral sclerosis Projectile vomiting Hypsarrhythmia Corpus callosum atrophy CNS hypomyelination Progressive neurologic deterioration Leukodystrophy Paraparesis Spastic paraparesis Neuronal loss in central nervous system Focal-onset seizure Premature birth Gliosis Autism Spastic tetraparesis Polymicrogyria Absent speech Arthrogryposis multiplex congenita Severe global developmental delay Global brain atrophy Decreased muscle mass Abnormal pyramidal sign Rigidity Ankle clonus Severe failure to thrive EEG abnormality Tetraparesis Kyphoscoliosis Macrocephaly Gastroesophageal reflux Neurodegeneration Uncontrolled eye movements Increased density of long bones Ataxia Hyperreflexia Edema Blindness Encephalopathy Agenesis of corpus callosum Developmental regression Dysmetria Tetraplegia Osteopetrosis Aciduria Tetralogy of Fallot Spastic tetraplegia Abnormal vertebral morphology Truncal ataxia Aminoaciduria Abnormality of the vertebral column Progressive encephalopathy Titubation Acute encephalopathy Decreased activity of the pyruvate dehydrogenase complex Increased head circumference Short femoral neck Thin upper lip vermilion Small nail Anxiety Low-set, posteriorly rotated ears Hyperlordosis Autistic behavior Wide mouth Attention deficit hyperactivity disorder Broad forehead Hypermetropia Small hand Short foot Broad-based gait Leukopenia Obsessive-compulsive behavior Hepatomegaly Gait disturbance Hydrocephalus Splenomegaly Prominent forehead Hepatosplenomegaly Facial palsy Irritability Triangular face Short chin Spasticity Large hands Giant hypertrophic gastritis Osteoporosis Generalized tonic-clonic seizures Poor speech Postnatal microcephaly Muscle fibrillation Enterocolitis Fetal distress Prenatal movement abnormality Growth delay Myopathy Diabetes mellitus Respiratory distress Small for gestational age Muscular dystrophy Downturned corners of mouth Coma Hypertriglyceridemia Hyperlipidemia Adrenal insufficiency Loss of consciousness Pathologic fracture Ketoacidosis Apnea Respiratory insufficiency Episodic vomiting Abnormality of the eye Elevated hepatic transaminase Lactic acidosis Decreased liver function Tachypnea Hyperammonemia Poor suck Abnormality of mitochondrial metabolism Abnormality of coagulation Ketosis Increased serum pyruvate Pulmonic stenosis Elfin facies Dehydration Thick lower lip vermilion Nephrolithiasis Aortic valve stenosis Nephrocalcinosis Hypercalciuria Hypercalcemia Polyuria Infantile hypercalcemia Medullary nephrocalcinosis Adrenal hypoplasia Congenital adrenal hypoplasia Neoplasm of the gastrointestinal tract Paraganglioma Gastrointestinal hemorrhage Hyperpigmentation of the skin Eosinophilia Sarcoma Urticaria Cognitive impairment Hypermelanotic macule Neurofibromas Irregular hyperpigmentation Lipoma Schwannoma Skin rash Gastrointestinal stroma tumor Leiomyosarcoma Soft tissue sarcoma Mastocytosis Neoplasm of the small intestine Neoplasm of the rectum Esophageal neoplasm Neoplasm of the colon Neoplasm of the stomach Gastrointestinal obstruction Nausea and vomiting Pallor Adrenocortical hypoplasia Pyloric stenosis Increased urinary glycerol Hyperglycerolemia Peripheral neuropathy Downslanted palpebral fissures Patent ductus arteriosus Hydronephrosis Feeding difficulties in infancy Smooth philtrum Intestinal malrotation Aganglionic megacolon Spastic diplegia Abdominal pain Multiple lipomas Arthropathy Volvulus Intestinal pseudo-obstruction Increased mean platelet volume Congenital shortened small intestine Increased size of the mandible Neoplasm Fatigue Dysphagia Encephalomalacia



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Frontal bossing and Atrial septal defect, related diseases and genetic alterations Ventricular septal defect and Facial asymmetry, related diseases and genetic alterations Intellectual disability, severe and Thrombocytopenia, related diseases and genetic alterations Pain and Coloboma, related diseases and genetic alterations Cataract and Micropenis, related diseases and genetic alterations Scoliosis and Renal hypoplasia, related diseases and genetic alterations

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