Hypertelorism, and Frontal bossing

Diseases related with Hypertelorism and Frontal bossing

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

Top matches:

Oral-facial-digital syndrome, type 5 is characterized by median cleft of the upper lip, postaxial polydactyly of hands and feet, and oral manifestations (duplicated frenulum).

OROFACIODIGITAL SYNDROME TYPE 5 Is also known as polydactyly postaxial with median cleft of upper lip|oral-facial-digital syndrome type 5|polydactyly, postaxial, with median cleft of upper lip|oral-facial-digital syndrome, type v|thurston syndrome|ofd5|orofaciodigital syndrome, thurston type|ofds v

Related symptoms:

  • Intellectual disability
  • Scoliosis
  • Hypertelorism
  • Cleft palate
  • Frontal bossing


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about OROFACIODIGITAL SYNDROME TYPE 5

Jackson-Weiss syndrome (JWS) is a rare genetic disorder characterized by foot malformations (tarsal and metatarsal fusions; short, broad, medially deviated great toes) and in some patients craniosynostosis with facial anomalies. Hands are normal in affected patients.

JACKSON-WEISS SYNDROME Is also known as craniosynostosis-midfacial hypoplasia-foot abnormalities syndrome|jws

Related symptoms:

  • Hypertelorism
  • Strabismus
  • Ptosis
  • Frontal bossing
  • Midface retrusion


SOURCES: OMIM ORPHANET MENDELIAN

More info about JACKSON-WEISS SYNDROME

Related symptoms:

  • Seizures
  • Short stature
  • Scoliosis
  • Hypertelorism
  • Muscular hypotonia


SOURCES: ORPHANET MENDELIAN

More info about SYMPTOMATIC FORM OF COFFIN-LOWRY SYNDROME IN FEMALE CARRIERS

Other less relevant matches:

Although the phenotypic spectrum and severity of FG syndrome is wide, the cardinal features include congenital hypotonia, delayed speech development, relative macrocephaly, dysmorphic facies, and anal anomalies or severe constipation (Unger et al., 2007).For a general phenotypic description and a discussion of genetic heterogeneity of FG syndrome, see FGS1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Hypertelorism
  • Failure to thrive


SOURCES: OMIM MENDELIAN

More info about FG SYNDROME 2; FGS2

SIX2-RELATED FRONTONASAL DYSPLASIA Is also known as six2-related fnd

Related symptoms:

  • Global developmental delay
  • Short stature
  • Hypertelorism
  • Ptosis
  • Depressed nasal bridge


SOURCES: ORPHANET MENDELIAN

More info about SIX2-RELATED FRONTONASAL DYSPLASIA

Sclerosteosis is a severe sclerosing bone dysplasia characterized by progressive skeletal overgrowth. Syndactyly is a variable manifestation. The disorder is rare and the majority of affected individuals have been reported in the Afrikaner population of South Africa (summary by Brunkow et al., 2001).For a discussion of genetic heterogeneity of sclerosteosis, see SOST1 (OMIM ).

Related symptoms:

  • Hearing impairment
  • Hypertelorism
  • Macrocephaly
  • Gait disturbance
  • Frontal bossing


SOURCES: OMIM MENDELIAN

More info about SCLEROSTEOSIS 2; SOST2

JBTS32 is an autosomal recessive developmental disorder characterized by delayed psychomotor development, intellectual disability, dysmorphic facial features, and postaxial polydactyly. Brain imaging shows cerebellar abnormalities consistent with the molar tooth sign (MTS) (summary by De Mori et al., 2017).For discussion of genetic heterogeneity of Joubert syndrome, see JBTS1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Ataxia
  • Hypertelorism


SOURCES: OMIM MENDELIAN

More info about JOUBERT SYNDROME 32; JBTS32

Multiple epiphyseal dysplasia, Al-Gazali type is a skeletal dysplasia characterized by multiple epiphyseal dysplasia (see this term), macrocephaly and facial dysmorphism.

MULTIPLE EPIPHYSEAL DYSPLASIA, AL-GAZALI TYPE Is also known as multiple epiphyseal dysplasia-macrocephaly-distinctive facies syndrome|macrocephaly with multiple epiphyseal dysplasia and distinctive facies|mmedf

Related symptoms:

  • Hypertelorism
  • Abnormal facial shape
  • Low-set ears
  • Motor delay
  • Macrocephaly


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about MULTIPLE EPIPHYSEAL DYSPLASIA, AL-GAZALI TYPE

Joubert syndrome-26 is an autosomal recessive ciliopathy characterized by global developmental delay associated with cerebellar hypoplasia and variable additional abnormalities, including hypotonia and possibly pituitary abnormalities (summary by Sanders et al., 2015).For a phenotypic description and a discussion of genetic heterogeneity of Joubert syndrome, see {213300}.

Related symptoms:

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Ataxia
  • Hypertelorism


SOURCES: OMIM MENDELIAN

More info about JOUBERT SYNDROME 26; JBTS26

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

Top 5 symptoms//phenotypes associated to Hypertelorism and Frontal bossing

Symptoms // Phenotype % cases
Macrocephaly Common - Between 50% and 80% cases
Seizures Uncommon - Between 30% and 50% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Ptosis Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Abnormal facial shape Short stature Molar tooth sign on MRI Generalized hypotonia

Rare Symptoms - Less than 30% cases

Pectus carinatum Mandibular prognathia Oculomotor apraxia Failure to thrive Depressed nasal bridge Apraxia Polydactyly Obesity Agenesis of corpus callosum Scoliosis Pectus excavatum Midface retrusion Postaxial polydactyly Abnormal heart morphology Nystagmus Ataxia Hearing impairment Delayed speech and language development Cleft palate Polyhydramnios Hyperostosis Genu valgum Finger syndactyly Hip dislocation Clinodactyly Brain atrophy Osteoarthritis Tetraparesis Inguinal hernia Low-set ears Malar flattening Short neck Motor delay Short finger Elongated superior cerebellar peduncle Increased intracranial pressure Large for gestational age Cerebellar vermis hypoplasia Abnormal cerebellum morphology Polymicrogyria Intellectual disability, mild Dysarthria Sclerotic vertebral endplates Cutaneous finger syndactyly Tall stature Anteverted nares Abnormality of epiphysis morphology Hepatic steatosis Muscle weakness Skeletal muscle atrophy Atrial septal defect Cerebral atrophy Elevated hepatic transaminase Pulmonic stenosis Poor speech Coarctation of aorta Inferior vermis hypoplasia Cholestasis Progressive muscle weakness Decreased liver function Hyperbilirubinemia Secundum atrial septal defect Portal fibrosis Hypermethioninemia Sensorineural hearing impairment Ectopic posterior pituitary Lymphedema Micropenis Joint dislocation Epiphyseal dysplasia Multiple epiphyseal dysplasia Enlarged joints Overgrowth Recurrent infections Cerebellar hypoplasia Hypothyroidism Central hypothyroidism Cleft lip Growth hormone deficiency Tachypnea Cone/cone-rod dystrophy Recurrent upper respiratory tract infections Bilateral ptosis Panhypopituitarism Small nail Absent/hypoplastic paranasal sinuses Nail dysplasia Broad metatarsal Turricephaly Split foot Preaxial foot polydactyly Broad hallux phalanx Symphalangism affecting the phalanges of the hand Abnormality of fibula morphology Muscular hypotonia 2-3 toe syndactyly Downslanted palpebral fissures Kyphosis Abnormality of cardiovascular system morphology Depressivity Wide nose Everted lower lip vermilion Underdeveloped supraorbital ridges Short metatarsal Psychosis Median cleft lip Ventricular septal defect Cleft upper lip Bifid uvula Postaxial hand polydactyly Aganglionic megacolon Horseshoe kidney Postaxial foot polydactyly Abnormal palate morphology Lobulated tongue Strabismus Proptosis Toe syndactyly Hypoplasia of the maxilla Convex nasal ridge Tapered finger Oligodontia Dental malocclusion Prominent palatine ridges Wide anterior fontanel Abnormality of the thyroid gland Epicanthus inversus Metopic synostosis Abnormality of the skull base Premature posterior fontanelle closure Aplasia/Hypoplasia of the frontal sinuses Small for gestational age Gait disturbance Abnormality of the skeletal system Syndactyly Gait ataxia Facial palsy Facial asymmetry Broad nasal tip Abnormality of the kidney Large hands Abnormality of the pinna Bipolar affective disorder Anodontia Constipation Prominent forehead Hyperactivity Neonatal hypotonia Protruding ear High forehead Relative macrocephaly Anteriorly placed anus Large forehead Frontal upsweep of hair Underdeveloped superior crus of antihelix Intrauterine growth retardation Posteriorly rotated ears Narrow foot


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