Hypertelorism, and Midface retrusion

Diseases related with Hypertelorism and Midface retrusion

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

Top matches:

Isolated brachycephaly is a relatively frequent nonsyndromic craniosynostosis consisting of premature fusion of both coronal sutures leading to skull deformity with a broad flat forehead and palpable coronal ridges.

ISOLATED BRACHYCEPHALY Is also known as non-syndromic bicoronal synostosis

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Hypertelorism
  • Brachydactyly
  • Midface retrusion


SOURCES: ORPHANET MENDELIAN

More info about ISOLATED BRACHYCEPHALY

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 63; EIEE63

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

Other less relevant matches:

Familial scaphocephaly syndrome, McGillivray type is a rare newly described craniosynostosis (see this term) syndrome characterized by scaphocephaly, macrocephaly, severe maxillary retrusion, and mild intellectual disability.

FAMILIAL SCAPHOCEPHALY SYNDROME, MCGILLIVRAY TYPE Is also known as scaphocephaly-macrocephaly-maxillary retrusion-intellectual disability syndrome

Related symptoms:

  • Intellectual disability
  • Hypertelorism
  • High palate
  • Macrocephaly
  • Ventriculomegaly


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about FAMILIAL SCAPHOCEPHALY SYNDROME, MCGILLIVRAY TYPE

Pfeiffer syndrome type 1 (PS1) is a mild to moderately severe type of Pfeiffer syndrome (PS; see this term), characterized by bicoronal craniosynostosis, variable finger and toe malformations, and in most cases, normal intellectual development.

PFEIFFER SYNDROME TYPE 1 Is also known as classic pfeiffer syndrome

Related symptoms:

  • Hearing impairment
  • Hypertelorism
  • Low-set ears
  • High palate
  • Depressed nasal bridge


SOURCES: ORPHANET MENDELIAN

More info about PFEIFFER SYNDROME TYPE 1

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

Related symptoms:

  • Hypertelorism
  • Abnormal facial shape
  • Cryptorchidism
  • Low-set ears
  • Epicanthus


SOURCES: OMIM MENDELIAN

More info about OROFACIAL CLEFT 15; OFC15

Craniosynostosis-dental anomalies is a rare, genetic, cranial malformation syndrome characterized by premature fusion of multiple or all calvarial sutures (resulting in variable abnormal shape of the head), midface hypoplasia, delayed and ectopic tooth eruption and supernumerary teeth. Associated facial dysmorphism includes proptosis, hypertelorism, beaked nose, and relative prognathism. Variable digital anomalies (e.g. finger and/or toe syndactyly, clinodactyly), short stature, cognitive and/or motor delay, high palate, ear deformity and conductive hearing loss have also been reported.

CRANIOSYNOSTOSIS-DENTAL ANOMALIES Is also known as kreiborg-pakistani syndrome

Related symptoms:

  • Hypertelorism
  • Abnormality of the dentition
  • Syndactyly
  • Midface retrusion
  • Clinodactyly


SOURCES: ORPHANET OMIM MENDELIAN

More info about CRANIOSYNOSTOSIS-DENTAL ANOMALIES

LICS is an autosomal recessive chromosome breakage syndrome characterized by failure to thrive in infancy, immune deficiency, and fatal progressive pediatric lung disease induced by viral infection. Some patients may have mild dysmorphic features (summary by van der Crabben et al., 2016).

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Hypertelorism
  • Failure to thrive
  • Abnormal facial shape


SOURCES: OMIM MENDELIAN

More info about LUNG DISEASE, IMMUNODEFICIENCY, AND CHROMOSOME BREAKAGE SYNDROME; LICS

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

Top 5 symptoms//phenotypes associated to Hypertelorism and Midface retrusion

Symptoms // Phenotype % cases
Proptosis Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Toe syndactyly Uncommon - Between 30% and 50% cases
Hypoplasia of the maxilla Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Broad hallux phalanx Macrocephaly Frontal bossing Depressed nasal bridge Abnormal facial shape Mandibular prognathia Brachycephaly Hearing impairment

Rare Symptoms - Less than 30% cases

Upslanted palpebral fissure Dental malocclusion 2-3 toe syndactyly Turricephaly Syndactyly Short nose Recurrent infections Craniosynostosis Trigonocephaly Scaphocephaly Pneumonia Low-set ears Immunodeficiency High forehead High palate Broad forehead Underdeveloped supraorbital ridges Generalized hypotonia Feeding difficulties Long philtrum Increased intracranial pressure Flat forehead Lambdoidal craniosynostosis Fingernail dysplasia Sagittal craniosynostosis Coronal craniosynostosis Papilledema Increased number of teeth Scotoma Hallux valgus Short phalanx of finger Bronchiolitis obliterans Increased head circumference Delayed eruption of teeth Clinodactyly Abnormality of the dentition Hyponasal speech Palate fistula Agenesis of lateral incisor Bilateral cleft palate Euryblepharon Ectropion of lower eyelids High anterior hairline Bilateral cleft lip and palate Bilateral cleft lip Ectropion Failure to thrive Biparietal narrowing Severe combined immunodeficiency Chromosome breakage Fever Obesity Increased sensitivity to ionizing radiation Abnormality of the thymus Dermal translucency Autism Hepatosplenomegaly Bronchiolitis Prominent superficial veins Autistic behavior Mild global developmental delay Emphysema Neoplasm Sparse eyelashes Attention deficit hyperactivity disorder Failure to thrive in infancy Wide anterior fontanel Lymphadenopathy Decreased antibody level in blood Pancytopenia Abnormal lung morphology Lymphopenia Eczema Combined immunodeficiency Muscular hypotonia of the trunk Sparse eyebrow Facial asymmetry Single transverse palmar crease Delayed ability to walk Intellectual disability, mild Ventriculomegaly Broad metatarsal Abnormality of fibula morphology Symphalangism affecting the phalanges of the hand Preaxial foot polydactyly Split foot Short metatarsal Abnormal palate morphology Convex nasal ridge Ptosis Strabismus Overlapping toe Open bite Cerebral palsy Generalized-onset seizure Epileptic encephalopathy Generalized myoclonic seizures Inability to walk Abnormality of movement Thin upper lip vermilion Cerebral cortical atrophy Absent speech Seizures Metacarpal synostosis Brachydactyly Dolichocephaly Shallow orbits Bulbous nose Nail dysplasia Protruding ear Cleft lip Hernia Epicanthus Cryptorchidism Sclerotic vertebral endplates Cutaneous finger syndactyly Short finger Hyperostosis Tetraparesis Small nail Overgrowth Facial palsy Craniofacial dysostosis Gait ataxia Abnormality of the skeletal system Gait disturbance Bicoronal synostosis Hallux varus Aqueductal stenosis Short hallux Aplasia/Hypoplasia of the thumb Broad thumb Short foot Short palm Finger syndactyly Postnatal macrocephaly


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