Hypertelorism, and Pulmonic stenosis

Diseases related with Hypertelorism and Pulmonic stenosis

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

Top matches:

Noonan syndrome is an autosomal dominant disorder characterized by short stature, craniofacial dysmorphism, short and/or webbed neck, cardiac abnormalities, cryptorchidism, and coagulation defects (summary by Yamamoto et al., 2015).For a phenotypic description and a discussion of genetic heterogeneity of Noonan syndrome, see NS1 (OMIM ).

Related symptoms:

  • Short stature
  • Hypertelorism
  • Cryptorchidism
  • Ptosis
  • Downslanted palpebral fissures


SOURCES: OMIM MENDELIAN

More info about NOONAN SYNDROME 10; NS10

Neurofibromatosis-Noonan syndrome (NFNS) is a RASopathy and a variant of neurofibromatosis type 1 (NF1) characterized by the combination of features of NF1, such as café-au-lait spots, iris Lisch nodules, axillary and inguinal freckling, optic nerve glioma and multiple neurofibromas, and Noonan syndrome (NS), such as short stature, typical facial features (hypertelorism, ptosis, downslanting palpebral fissures, low-set posteriorly rotated ears with a thickened helix, and a broad forehead), congenital heart defects and unusual pectus deformity. As these three entities have significant phenotypic overlap, molecular genetic testing is often necessary for a correct diagnosis (such as when café-au-lait spots are present in patients diagnosed with NS).

NEUROFIBROMATOSIS-NOONAN SYNDROME Is also known as nfns|neurofibromatosis type 1-noonan syndrome

Related symptoms:

  • Short stature
  • Hypertelorism
  • Cryptorchidism
  • Ptosis
  • Downslanted palpebral fissures


SOURCES: ORPHANET MENDELIAN

More info about NEUROFIBROMATOSIS-NOONAN SYNDROME

Noonan syndrome is an autosomal dominant disorder characterized by short stature, craniofacial dysmorphism, short and/or webbed neck, cardiac abnormalities, cryptorchidism, and coagulation defects (summary by Yamamoto et al., 2015).For a phenotypic description and a discussion of genetic heterogeneity of Noonan syndrome, see NS1 (OMIM ).

Related symptoms:

  • Global developmental delay
  • Short stature
  • Hypertelorism
  • Abnormal facial shape
  • Cryptorchidism


SOURCES: OMIM MENDELIAN

More info about NOONAN SYNDROME 9; NS9

Other less relevant matches:

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hypertelorism
  • Abnormal facial shape


SOURCES: MESH OMIM MENDELIAN

More info about NOONAN SYNDROME 5; NS5

Noonan syndrome is a developmental disorder characterized by reduced postnatal growth, dysmorphic facial features, cardiac defects, and variable cognitive defects (summary by Sarkozy et al., 2009).

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Scoliosis
  • Hypertelorism


SOURCES: OMIM MENDELIAN

More info about NOONAN SYNDROME 7; NS7

Hypermethioninemia encephalopathy due to adenosine kinase deficiency is a rare inborn error of metabolism disorder characterized by persistent hypermethioninemia with increased levels of S-adenosylmethionine and S-adenosylhomocysteine which manifests with encephalopathy, severe global developmental delay, mild to severe liver dysfunction, hypotonia and facial dysmorphism (most significant is frontal bossing, macrocephaly, hypertelorism and depressed nasal bridge). Epileptic seizures, hypoglycemia and/or cardiac defects (pulmonary stenosis, atrial and/or ventricular septal defect, coarctation of the aorta) may be associated. Clinical picture may range from neurological symptoms only to multi-organ involvement.

HYPERMETHIONINEMIA ENCEPHALOPATHY DUE TO ADENOSINE KINASE DEFICIENCY Is also known as mental retardation, autosomal recessive 8, formerly|adk hypermethioninemia|mrt8, formerly|hypermethioninemia encephalopathy due to adk deficiency

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Hypertelorism


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about HYPERMETHIONINEMIA ENCEPHALOPATHY DUE TO ADENOSINE KINASE DEFICIENCY

Zellweger syndrome (ZS) is an autosomal recessive multiple congenital anomaly syndrome resulting from disordered peroxisome biogenesis. 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 12 (CG12, equivalent to CGG) have mutations in the PEX3 gene. For information on the history of PBD complementation groups, see {214100}.

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Hypertelorism
  • Micrognathia
  • Muscular hypotonia


SOURCES: OMIM MENDELIAN

More info about PEROXISOME BIOGENESIS DISORDER 10A (ZELLWEGER); PBD10A

Related symptoms:

  • Intellectual disability
  • Short stature
  • Scoliosis
  • Hypertelorism
  • Abnormal facial shape


SOURCES: MESH OMIM MENDELIAN

More info about NOONAN SYNDROME 4; NS4

Hyperphosphatasia with mental retardation syndrome-2 is an autosomal recessive disorder characterized by moderately to severely delayed psychomotor development, facial dysmorphism, brachytelephalangy, and increased serum alkaline phosphatase (hyperphosphatasia). Some patients may have additional features, such as cardiac septal defects or seizures (summary by Krawitz et al., 2012). The disorder is caused by a defect in glycosylphosphatidylinositol (GPI) biosynthesis.For a discussion of genetic heterogeneity of hyperphosphatasia with mental retardation syndrome, see HPMRS1 (OMIM ).For a discussion of genetic heterogeneity of GPI biosynthesis defects, see GPIBD1 (OMIM ).

HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 2; HPMRS2 Is also known as glycosylphosphatidylinositol biosynthesis defect 6|gpibd6

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 2; HPMRS2

High match IVEMARK SYNDROME

Right atrial isomerism is a severe complex congenital heart defect resulting from embryonic disruption of proper left-right axis determination. RAI is usually characterized by complete atrioventricular septal defect with a common atrium and univentricular AV connection, total anomalous pulmonary drainage, and transposition or malposition of the great arteries. Affected individuals present at birth with severe cardiac failure. Other associated abnormalities include bilateral trilobed lungs, midline liver, and asplenia, as well as situs inversus affecting other organs. Left atrial isomerism (LAI) is a related disorder with a somewhat better prognosis. LAI is characterized by bilateral superior vena cava, interruption of the intrahepatic portion of the inferior vena cava, partial anomalous pulmonary venous drainage, and ventricular septal defect. Patients with LAI may have polysplenia and bilateral bilobed lungs, as well as situs inversus affecting other organs. Both RAI and LAI malformation complexes have classically been referred to as Ivemark syndrome (summary by Eronen et al., 2004 and Kaasinen et al., 2010).

IVEMARK SYNDROME Is also known as ivemark syndrome|asplenia with cardiovascular anomalies|right isomerism

Related symptoms:

  • Growth delay
  • Hypertelorism
  • Low-set ears
  • Flexion contracture
  • Intrauterine growth retardation


SOURCES: OMIM ORPHANET MENDELIAN

More info about IVEMARK SYNDROME

Top 5 symptoms//phenotypes associated to Hypertelorism and Pulmonic stenosis

Symptoms // Phenotype % cases
Atrial septal defect Common - Between 50% and 80% cases
Webbed neck Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
Downslanted palpebral fissures Common - Between 50% and 80% cases
Short neck Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Ptosis Abnormal facial shape Intellectual disability Global developmental delay Cryptorchidism Generalized hypotonia Abnormal cardiac septum morphology Low-set ears Ventricular septal defect Hypertrophic cardiomyopathy Curly hair Seizures Macrocephaly Sparse and thin eyebrow Coarctation of aorta Epicanthus

Rare Symptoms - Less than 30% cases

Anal atresia Delayed speech and language development Depressed nasal bridge Scoliosis Congestive heart failure Prominent forehead Growth delay Secundum atrial septal defect Feeding difficulties Mild short stature Abnormality of coagulation Dysphagia Abnormality of the sternum Prolonged bleeding time Low-set, posteriorly rotated ears Sparse eyebrow Aganglionic megacolon Small nail Upslanted palpebral fissure Generalized-onset seizure Plagiocephaly Vesicoureteral reflux Tented upper lip vermilion Broad nasal tip Elevated alkaline phosphatase Left atrial isomerism Pulmonary artery atresia Short nose Ventriculomegaly Broad hallux Wide nasal bridge Cleft palate Microcephaly Pectus excavatum of inferior sternum High anterior hairline Blue irides Bilateral cryptorchidism Cubitus valgus Thick lower lip vermilion Bilateral trilobed lungs Anal stenosis Anonychia Dextrocardia Complete atrioventricular canal defect Anomalous pulmonary venous return Abdominal situs inversus Asplenia Heterotaxy Choanal stenosis Polysplenia Abnormal lung lobation Total anomalous pulmonary venous return Atrioventricular canal defect Dental malocclusion Biliary atresia Situs inversus totalis Long palpebral fissure Ambiguous genitalia Agenesis of corpus callosum Abnormal heart morphology Abnormality of cardiovascular system morphology Intrauterine growth retardation Common atrium Flexion contracture Perineal fistula Shortening of all distal phalanges of the fingers Anterior plagiocephaly Single ventricle Peripheral pulmonary artery stenosis Wide intermamillary distance Muscular hypotonia Polyhydramnios Wide mouth Failure to thrive Hearing impairment Thickened helices Poor suck Hyperpigmentation of the skin Narrow forehead Dolichocephaly Pectus carinatum Abnormality of the skeletal system Cognitive impairment Thick vermilion border Mandibular prognathia Muscle weakness Arrhythmia Hyperkeratosis pilaris Hyperkeratosis Abdominal wall muscle weakness Abnormality of the lymphatic system Abnormality of the helix Multiple cafe-au-lait spots Abnormality of the thorax Abnormality of the face Specific learning disability Schwannoma Mitral stenosis Sensorineural hearing impairment Skeletal muscle atrophy Posteriorly rotated ears High palate Generalized neonatal hypotonia Right aortic arch Perimembranous ventricular septal defect Epiphyseal stippling Decreased fetal movement Prominent nose Round face Severe global developmental delay Broad forehead High forehead Areflexia Hepatomegaly Cataract Frontal bossing Micrognathia Narrow foot Hypermethioninemia Portal fibrosis Hyperbilirubinemia Decreased liver function Progressive muscle weakness Cholestasis Hepatic steatosis Poor speech Elevated hepatic transaminase Cerebral atrophy Right atrial isomerism


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