Hypertelorism, and Hepatitis

Diseases related with Hypertelorism and Hepatitis

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

Top matches:

Trichohepatoenteric syndrome (THES) is a rare and severe disease characterized by intrauterine growth retardation, facial dysmorphism, hair abnormalities, intractable diarrhea, and immunodeficiency (summary by Fabre et al., 2012).For a discussion of genetic heterogeneity of trichohepatoenteric syndrome, see THES1 (OMIM ).

Related symptoms:

  • Growth delay
  • Hypertelorism
  • Failure to thrive
  • Abnormal facial shape
  • Anemia


SOURCES: OMIM MENDELIAN

More info about TRICHOHEPATOENTERIC SYNDROME 2; THES2

Agammaglobulinemia, non-Bruton type (autosomal agammaglobulinemia) is a rare form of agammaglobulinemia, a primary immunodeficiency disease, and is characterized by variable immune dysfunction with frequent and recurrent bacterial infections and/or chronic diarrhea.

AUTOSOMAL AGAMMAGLOBULINEMIA Is also known as agammaglobulinemia, autosomal recessive, due to ighm defect|agammaglobulinemia, non-bruton type

Related symptoms:

  • Hypertelorism
  • Failure to thrive
  • High palate
  • Epicanthus
  • Fever


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL AGAMMAGLOBULINEMIA

Medium match PROLIDASE DEFICIENCY

Prolidase deficiency is an inherited disorder of peptide metabolism characterized by severe skin lesions, recurrent infections (involving mainly the skin and respiratory system), dysmorphic facial features, variable cognitive impairment, and splenomegaly.

PROLIDASE DEFICIENCY Is also known as hyperimidodipeptiduria

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hearing impairment
  • Hypertelorism
  • Micrognathia


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about PROLIDASE DEFICIENCY

Other less relevant matches:

Wolcott-Rallison syndrome (WRS) is a very rare genetic disease, characterized by permanent neonatal diabetes mellitus (PNDM) with multiple epiphyseal dysplasia and other clinical manifestations, including recurrent episodes of acute liver failure.

WOLCOTT-RALLISON SYNDROME Is also known as iddm-med syndrome|med-iddm syndrome|wolcott-rallison syndrome|wrs|early-onset diabetes mellitus with multiple epiphyseal dysplasia

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about WOLCOTT-RALLISON SYNDROME

Hennekam lymphangiectasia-lymphedema syndrome-3 (HKKLLS3) is characterized by widespread congenital edema that is more severe in more dependent areas of the body. Associated features include facial dysmorphism and protein-losing enteropathy of variable severity (Brouillard et al., 2017).For a discussion of genetic heterogeneity of Hennekam lymphangiectasia-lymphedema syndrome, see HKLLS1 (OMIM ).

Related symptoms:

  • Global developmental delay
  • Hypertelorism
  • Strabismus
  • Abnormal facial shape
  • Edema


SOURCES: OMIM MENDELIAN

More info about HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 3; HKLLS3

Congenital dyserythropoietic anemia type IV (CDA IV) is a newly discovered form of CDA (see this term) characterized by ineffective erythropoiesis and hemolysis that leads to severe anemia at birth.

CONGENITAL DYSERYTHROPOIETIC ANEMIA TYPE IV Is also known as cda, type iv|cda type 4|congenital dyserythropoietic anemia due to klf1 mutation|cda iv|cdan4|congenital dyserythropoietic anemia type 4|cda type iv|cda due to klf1 mutation

Related symptoms:

  • Short stature
  • Hypertelorism
  • Anemia
  • Hepatomegaly
  • Cardiomyopathy


SOURCES: OMIM ORPHANET MENDELIAN

More info about CONGENITAL DYSERYTHROPOIETIC ANEMIA TYPE IV

The peroxisomal biogenesis disorder (PBD) Zellweger syndrome (ZS) is an autosomal recessive multiple congenital anomaly syndrome. Affected children present in the newborn period with profound hypotonia, seizures, and inability to feed. Characteristic craniofacial anomalies, eye abnormalities, neuronal migration defects, hepatomegaly, and chondrodysplasia punctata are present. Children with this condition do not show any significant development and usually die in the first year of life (summary by Steinberg et al., 2006).For a complete phenotypic description and a discussion of genetic heterogeneity of Zellweger syndrome, see {214100}.Individuals with PBDs of complementation group 4 (CG4, equivalent to CG6 and CGC) have mutations in the PEX6 gene. For information on the history of PBD complementation groups, see {214100}.

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Hypertelorism
  • Depressed nasal bridge
  • Epicanthus


SOURCES: OMIM MESH MENDELIAN

More info about PEROXISOME BIOGENESIS DISORDER 4A (ZELLWEGER); PBD4A

Paris-Trousseau thrombocytopenia (TCPT) is a contiguous gene syndrome characterized by mild bleeding tendency, variable thrombocytopenia (THC), dysmorphic facies, abnormal giant alpha-granules in platelets and dysmegakaryopoiesis.

PARIS-TROUSSEAU THROMBOCYTOPENIA Is also known as chromosome 11q23 deletion syndrome

Related symptoms:

  • Intellectual disability
  • Growth delay
  • Hypertelorism
  • Micrognathia
  • Abnormal facial shape


SOURCES: OMIM ORPHANET MENDELIAN

More info about PARIS-TROUSSEAU THROMBOCYTOPENIA

A rare, genetic, neurological disease characterized by association of macrocephaly, dysmorphic facial features and psychomotor delay leading to intellectual disability and autism spectrum disorder. Facial dysmorphism may include frontal bossing, hypertelorism, midface hypoplasia, depressed nasal bridge, short nose, and long philtrum.

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hypertelorism
  • Neoplasm
  • Depressed nasal bridge


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about MACROCEPHALY-INTELLECTUAL DISABILITY-AUTISM SYNDROME

Related symptoms:

  • Short stature
  • Hypertelorism
  • Hepatomegaly
  • Respiratory insufficiency
  • Short nose


SOURCES: OMIM MENDELIAN

More info about GELEOPHYSIC DYSPLASIA 2; GPHYSD2

Top 5 symptoms//phenotypes associated to Hypertelorism and Hepatitis

Symptoms // Phenotype % cases
Hepatomegaly Common - Between 50% and 80% cases
Depressed nasal bridge Uncommon - Between 30% and 50% cases
Diarrhea Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Abnormal facial shape Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Hypertelorism and Hepatitis. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Anemia Hepatosplenomegaly Global developmental delay Recurrent infections Dehydration Long philtrum Growth delay Short nose High palate Short stature Upslanted palpebral fissure Epicanthus Obesity Immunodeficiency Intrauterine growth retardation

Rare Symptoms - Less than 30% cases

Thrombocytopenia Skin rash High forehead Failure to thrive Decreased antibody level in blood Delayed skeletal maturation Genu valgum Recurrent pneumonia Recurrent respiratory infections Splenomegaly Osteomyelitis Seizures Ptosis Micrognathia Prominent forehead Neutropenia Pneumonia Edema Fever Chronic diarrhea Lymphedema Joint stiffness Elevated hepatic transaminase Hip subluxation Strabismus Thoracolumbar kyphosis Ivory epiphyses of the toes Narrow iliac wings Flattened epiphysis Central hypothyroidism Pancreatic hypoplasia Decreased hip abduction Irregular tarsal ossification Intracerebral periventricular calcifications Ivory epiphyses of the phalanges of the hand Atlantoaxial dislocation Abnormality of pancreas morphology Chronic hepatic failure Reduced pancreatic beta cells Shortening of all middle phalanges of the fingers Irregular carpal bones Transient neonatal diabetes mellitus Enlarged thorax Bilateral coxa valga Carpal bone hypoplasia Renal tubular dysfunction Small epiphyses Neurodevelopmental delay Triangular face Microdontia Blue sclerae Abnormality of the metaphysis Abnormality of epiphysis morphology Coxa valga Type I diabetes mellitus Wormian bones Epiphyseal dysplasia Hyperglycemia Preauricular pit Spondyloepiphyseal dysplasia Abnormality of neuronal migration Short thorax Steatorrhea Thin bony cortex Ovoid vertebral bodies Glycosuria Hyperuricemia Hypoplasia of the odontoid process Exocrine pancreatic insufficiency Insulin-resistant diabetes mellitus Overweight Irregular vertebral endplates Ketoacidosis Cone-shaped epiphyses of the phalanges of the hand Synophrys Barrel-shaped chest Acute hepatic failure Multiple epiphyseal dysplasia Polyhydramnios Full cheeks Flat face Broad forehead Pyloric stenosis Trigonocephaly Radial deviation of finger Prolonged bleeding time Megakaryocyte dysplasia Neoplasm Macrocephaly Frontal bossing Midface retrusion Autism Mitral regurgitation Autistic behavior Attention deficit hyperactivity disorder Lymphadenopathy Finger syndactyly Pulmonary arterial hypertension Pancytopenia Mitral valve prolapse Lymphopenia Combined immunodeficiency Biparietal narrowing Severe combined immunodeficiency Increased head circumference Postnatal macrocephaly Respiratory insufficiency Thin upper lip vermilion Smooth philtrum Short palm Abnormality of the cardiovascular system Clinodactyly Abnormal intestine morphology Coma Protein-losing enteropathy Facial edema Cardiomyopathy Hypospadias Micropenis Hypertrophic cardiomyopathy Short foot Hydrops fetalis Wide anterior fontanel Hyperbilirubinemia Reticulocytosis Anemia of inadequate production Fetal distress Normochromic anemia Syndactyly Congenital hypoplastic anemia Erythroid hyperplasia Generalized hypotonia Respiratory failure Feeding difficulties in infancy Renal cyst Epiphyseal stippling Epicanthus inversus Toe walking Cone-shaped epiphysis Generalized neonatal hypotonia Calcific stippling Low-set ears Aortic valve stenosis Recurrent fractures Abnormal heart morphology Nephropathy Delayed speech and language development Encephalitis Chronic otitis media Cellulitis Bronchitis Recurrent sinusitis External ear malformation Agammaglobulinemia Verrucae B lymphocytopenia Crohn's disease Recurrent enteroviral infections Hearing impairment Visual impairment Conjunctivitis Downslanted palpebral fissures Intellectual disability, severe Vomiting Intellectual disability, mild Malar flattening Abnormality of metabolism/homeostasis Hyperkeratosis Proptosis Erythema Papule Pruritus Carious teeth Arachnodactyly Recurrent skin infections Recurrent bacterial infections Hirsutism Hypochromic microcytic anemia Wide nasal bridge Abnormality of the liver Sparse hair Small for gestational age Cirrhosis Wide nose Brittle hair Colitis Microcytic anemia Woolly hair Villous atrophy Trichorrhexis nodosa Bloody diarrhea Meningitis Chronic hepatitis Intractable diarrhea Pili canaliculi Uncombable hair Decreased serum iron Fatigue Arthritis Cough Malabsorption Sepsis Recurrent otitis media Bronchiectasis Sinusitis Dry skin Palmoplantar keratoderma Hepatic failure Osteoporosis Recurrent cystitis Microcephaly Muscular hypotonia Pain Spasticity Motor delay Brachydactyly Gait disturbance Hypertonia Kyphosis Renal insufficiency Severe short stature Diabetes mellitus Crusting erythematous dermatitis Brachycephaly Weight loss Hypothyroidism Acidosis Osteopenia Jaundice Hypoglycemia Hyperlordosis Irritability Hip dislocation Platyspondyly Hypermetropia Thin vermilion border Diffuse telangiectasia Facial hirsutism Asthma Reduced bone mineral density Convex nasal ridge Low posterior hairline Cutaneous photosensitivity Depressed nasal ridge Inflammatory abnormality of the skin Thin skin Abnormal lung morphology Abnormality of retinal pigmentation Skin ulcer Low anterior hairline Bilateral single transverse palmar creases Generalized hirsutism Abnormality of the fingernails Systemic lupus erythematosus Poliosis Psoriasiform dermatitis Increased antibody level in blood Petechiae Elevated erythrocyte sedimentation rate Abnormality of the hip bone Aplasia/Hypoplasia of the skin Abnormality of the immune system Prolonged neonatal jaundice Hypoplasia of the zygomatic bone Chronic lung disease Concave nasal ridge White forelock Abnormality of the middle ear Mitral stenosis


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Intrauterine growth retardation and Hyperinsulinemia, related diseases and genetic alterations Hepatomegaly and Frontal bossing, related diseases and genetic alterations Myopathy and Abnormal pyramidal sign, related diseases and genetic alterations Ptosis and Generalized tonic-clonic seizures, related diseases and genetic alterations Cardiomyopathy and Hyperinsulinemia, related diseases and genetic alterations