Hypertelorism, and Wide nasal bridge

Diseases related with Hypertelorism and Wide nasal bridge

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

Top matches:

Diamond-Blackfan anemia (DBA) is an inherited red blood cell aplasia that usually presents in the first year of life. The main features are normochromic macrocytic anemia, reticulocytopenia, and nearly absent erythroid progenitors in the bone marrow. Patients show growth retardation, and approximately 30 to 50% have craniofacial, upper limb, heart, and urinary system congenital malformations. The majority of patients have increased mean corpuscular volume, elevated erythrocyte adenosine deaminase activity, and persistence of hemoglobin F. However, some DBA patients do not exhibit these findings, and even in the same family, symptoms can vary between affected family members (summary by Landowski et al., 2013).For a discussion of genetic heterogeneity of Diamond-Blackfan anemia, see DBA1 (OMIM ).

Related symptoms:

  • Short stature
  • Growth delay
  • Hypertelorism
  • Anemia
  • Wide nasal bridge


SOURCES: MESH OMIM MENDELIAN

More info about DIAMOND-BLACKFAN ANEMIA 8; DBA8

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Microcephaly
  • Hypertelorism
  • Micrognathia


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, X-LINKED 61; MRX61

OROFACIODIGITAL SYNDROME XV; OFD15 Is also known as oral-facial-digital syndrome, type xv|ofds xv

Related symptoms:

  • Hypertelorism
  • Abnormal facial shape
  • Wide nasal bridge
  • Ventriculomegaly
  • Anteverted nares


SOURCES: OMIM MENDELIAN

More info about OROFACIODIGITAL SYNDROME XV; OFD15

Other less relevant matches:

Some ectodermal dysplasias are here classified as congenital disorders characterized by abnormal development in 2 or more ectodermal structures (hair, nails, teeth, and sweat glands) without other systemic findings. Ectodermal dysplasia-13 of the hair/tooth type is characterized by severe oligodontia accompanied by anomalies of hair and skin (Issa et al., 2016).

Related symptoms:

  • Hypertelorism
  • Abnormal facial shape
  • Depressed nasal bridge
  • Wide nasal bridge
  • Downslanted palpebral fissures


SOURCES: OMIM MENDELIAN

More info about ECTODERMAL DYSPLASIA 13, HAIR/TOOTH TYPE; ECTD13

Benign Samaritan congenital myopathy is a rare, genetic, skeletal muscle disease characterized by severe neonatal hypotonia with respiratory insufficiency, delay in motor milestones, and dysmorphic features including bitemporal narrowing, epicanthal folds and hypertelorism. Affected individuals show gradual improvement in hypotonia and muscle weakness within the first two years of life resulting in minimal clinical manifestations in adulthood.

Related symptoms:

  • Generalized hypotonia
  • Hypertelorism
  • Motor delay
  • Epicanthus
  • Wide nasal bridge


SOURCES: ORPHANET MENDELIAN

More info about BENIGN SAMARITAN CONGENITAL MYOPATHY

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 58; MRD58

20p12.3 microdeletion syndrome is a recently described syndrome characterized by Wolff-Parkinson-White syndrome (see this term), variable developmental delay and facial dysmorphism.

20P12.3 MICRODELETION SYNDROME Is also known as del(20)(p12.3)|monosomy 20p12.3

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Hypertelorism
  • Muscular hypotonia


SOURCES: ORPHANET MENDELIAN

More info about 20P12.3 MICRODELETION SYNDROME

X-LINKED INTELLECTUAL DISABILITY WITH ISOLATED GROWTH HORMONE DEFICIENCY Is also known as mrgh

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hypertelorism
  • High palate


SOURCES: ORPHANET OMIM MENDELIAN

More info about X-LINKED INTELLECTUAL DISABILITY WITH ISOLATED GROWTH HORMONE DEFICIENCY

Combined immunodeficiency with faciooculoskeletal anomalies is an extremely rare combined immunodeficiency disorder characterized by primary immunodeficiency manifesting with repeated bacterial, viral and fungal infections, in association with neurological manifestations (hypotonia, cerebellar ataxia, myoclonic seizures), developmental delay, optic atrophy, facial dysmorphism (high forehead, hypoplastic supraorbital ridges, palpebral edema, hypertelorism, flat nasal bridge, broad nasal root and tip, anteverted nares, thin lower lip overlapped by upper lip, square chin) and skeletal anomalies (short metacarpals/metatarsals with cone-shaped epiphyses, osteopenia).

COMBINED IMMUNODEFICIENCY WITH FACIOOCULOSKELETAL ANOMALIES Is also known as combined immunodeficiency, facial dysmorphism, optic nerve atrophy, skeletal anomalies, and developmental delay|roifman-chitayat syndrome

Related symptoms:

  • Seizures
  • Global developmental delay
  • Hypertelorism
  • Abnormal facial shape
  • Depressed nasal bridge


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about COMBINED IMMUNODEFICIENCY WITH FACIOOCULOSKELETAL ANOMALIES

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL RECESSIVE 15; MRT15

Top 5 symptoms//phenotypes associated to Hypertelorism and Wide nasal bridge

Symptoms // Phenotype % cases
Global developmental delay Common - Between 50% and 80% cases
Seizures Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Short stature Uncommon - Between 30% and 50% cases
Abnormal facial shape Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Hypertelorism and Wide nasal bridge. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Depressed nasal bridge Downslanted palpebral fissures Microcephaly Epicanthus Ventriculomegaly

Rare Symptoms - Less than 30% cases

Narrow mouth Motor delay Dolichocephaly High palate Long philtrum Generalized hypotonia Thick vermilion border Wide nose Malar flattening Intellectual disability, moderate Delayed speech and language development Prominent nose Poor speech Synophrys Abnormality of the skeletal system Optic atrophy Panhypopituitarism Myelomeningocele Hypopituitarism Adrenal insufficiency Spina bifida occulta Spina bifida Aspiration Growth hormone deficiency Delayed puberty Fine hair Short neck Coarse facial features Hypothyroidism Severe short stature Intellectual disability, mild Thickened helices Wolff-Parkinson-White syndrome Broad hallux phalanx Broad thumb Full cheeks Hypoplasia of the maxilla Pectus carinatum Anemia Pneumonia Immunodeficiency Thin upper lip vermilion Broad eyebrow Overweight Polyphagia Truncal obesity Short chin Pointed chin Long face Smooth philtrum Short philtrum Aggressive behavior Obesity Osteopenia Thin lower lip vermilion Lacrimal duct stenosis Underdeveloped supraorbital ridges Combined immunodeficiency Ectopic kidney Cone-shaped epiphysis Short metatarsal Short metacarpal Generalized myoclonic seizures Arthritis Umbilical hernia Microtia Neutropenia Short nose Cryptorchidism Pure red cell aplasia Micrognathia Thin eyebrow Agenesis of permanent teeth Reduced number of teeth Oligodontia Sparse eyelashes Low anterior hairline Ectodermal dysplasia Hypodontia Feeding difficulties Hyporeflexia Behavioral abnormality Broad forehead Lobulated tongue Molar tooth sign on MRI Broad hallux Postaxial polydactyly Flat face Hydronephrosis Polydactyly Agenesis of corpus callosum Anteverted nares Erythroid hypoplasia Prominent forehead Atrial septal defect Macrocytic anemia Macrocephaly Muscular hypotonia Delayed ability to walk Incoordination Plagiocephaly Dental crowding Facial asymmetry Neurological speech impairment Wide mouth Macrotia Growth delay Thick upper lip vermilion Reticulocytopenia Frog-leg posture Internally nucleated skeletal muscle fibers Functional respiratory abnormality Centrally nucleated skeletal muscle fibers Weak cry Myopathic facies Fasciculations Thickened skin Narrow forehead Lethargy Increased mean corpuscular volume Long eyebrows


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