Hypertelorism, and Highly arched eyebrow

Diseases related with Hypertelorism and Highly arched eyebrow

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

Top matches:

Intellectual developmental disorder with neuropsychiatric features is an autosomal recessive disorder characterized by moderate intellectual disability, relatively mild seizures, and neuropsychiatric abnormalities, such as anxiety, obsessive-compulsive behavior, and autistic features. Mild facial dysmorphic features may also be present (summary by Srour et al., 2017).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about INTELLECTUAL DEVELOPMENTAL DISORDER WITH NEUROPSYCHIATRIC FEATURES; IDDNPF

Acromegaloid facial appearance (AFA) syndrome is a multiple congenital anomalies/dysmorphic syndrome (see this term) with a probable autosomal dominant inheritance, characterized by a progressively coarse acromegaloid-like facial appearance with thickening of the lips and intraoral mucosa, large and doughy hands and, in some cases, developmental delay. AFA syndrome appears to be part of a phenotypic spectrum that includes hypertrichotic osteochondrodysplasia, Cantu type and hypertrichosis-acromegaloid facial appearance syndrome (see these terms).

ACROMEGALOID FACIAL APPEARANCE SYNDROME Is also known as afa syndrome|thick lips and oral mucosa

Related symptoms:

  • Seizures
  • Hypertelorism
  • Micrognathia
  • Intellectual disability, mild
  • Coarse facial features


SOURCES: ORPHANET MENDELIAN

More info about ACROMEGALOID FACIAL APPEARANCE SYNDROME

Peroxisomal fatty acyl-CoA reductase-1 disorder is an autosomal recessive disorder characterized by onset in infancy of severely delayed psychomotor development, growth retardation with microcephaly, and seizures. Some patients may have congenital cataracts and develop spasticity later in childhood. Biochemical studies tend to show decreased plasmalogen, consistent with a peroxisomal defect. The disorder is reminiscent of rhizomelic chondrodysplasia punctata (see, e.g., RCDP1, {215100}), although the characteristic skeletal abnormalities observed in RCDP are absent (Buchert et al., 2014).

SEVERE INTELLECTUAL DISABILITY-EPILEPSY-CATARACT SYNDROME DUE TO FATTY ACYL-COA REDUCTASE 1 DEFICIENCY Is also known as severe intellectual disability-epilepsy-cataract syndrome due to peroxisomal disorder|severe intellectual disability-epilepsy-cataract syndrome due to far1 deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: ORPHANET OMIM MENDELIAN

More info about SEVERE INTELLECTUAL DISABILITY-EPILEPSY-CATARACT SYNDROME DUE TO FATTY ACYL-COA REDUCTASE 1 DEFICIENCY

Other less relevant matches:

High match 3MC SYNDROME

3MC syndrome describes a rare developmental disorder, that unifies the overlapping autosomal recessive disorders previously known as Carnevale, Mingarelli, Malpuech and Michels syndromes, characterized by a spectrum of developmental anomalies that include distinctive facial dysmorphism (i.e. hypertelorism, blepharophimosis, blepharoptosis, highly arched eyebrows), cleft lip and/or palate, craniosynostosis, learning disability, radioulnar synostosis and genital and vesicorenal anomalies. Less common features reported include anterior chamber defects, cardiac anomalies (e.g. ventricular septal defect; see this term), caudal appendage, umbilical hernia/omphalocele and diastasis recti.

3MC SYNDROME Is also known as craniofacial-ulnar-renal syndrome|malpuech-michels-mingarelli-carnevale syndrome

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Scoliosis
  • Hypertelorism
  • Ptosis


SOURCES: ORPHANET MENDELIAN

More info about 3MC SYNDROME

Kleefstra syndrome-2 is an autosomal dominant neurodevelopmental disorder characterized by delayed psychomotor development, variable intellectual disability, and mild dysmorphic features (summary by Koemans et al., 2017).For a discussion of genetic heterogeneity of Kleefstra syndrome, see KLEFS1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: OMIM MENDELIAN

More info about KLEEFSTRA SYNDROME 2; KLEFS2

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Hearing impairment
  • Microcephaly


SOURCES: OMIM MENDELIAN

More info about BARAITSER-WINTER SYNDROME 2; BRWS2

Chitayat syndrome is a rare condition characterized by respiratory distress presenting at birth, bilateral accessory phalanx resulting in shortened index fingers with ulnar deviation, hallux valgus, and characteristic facial features including prominent eyes, hypertelorism, depressed nasal bridge, full lips, and upturned nose (summary by Balasubramanian et al., 2017).

Related symptoms:

  • Generalized hypotonia
  • Hypertelorism
  • Abnormal facial shape
  • Depressed nasal bridge
  • Brachydactyly


SOURCES: OMIM MENDELIAN

More info about CHITAYAT SYNDROME; CHYTS

LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 2; LSDMCA2 Is also known as aplcc|aplasia cutis congenita, reticulolinear, with microcephaly, facial dysmorphism, and other congenital anomalies

Related symptoms:

  • Global developmental delay
  • Short stature
  • Microcephaly
  • Growth delay
  • Hypertelorism


SOURCES: OMIM MENDELIAN

More info about LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 2; LSDMCA2

Okur-Chung neurodevelopmental syndrome is an autosomal dominant disorder characterized by delayed psychomotor development, intellectual disability with poor speech, behavioral abnormalities, cortical malformations in some patients, and variable dysmorphic facial features. Additional features, including microcephaly, gastrointestinal problems, and low levels of immunoglobulins, may be observed in some patients (Okur et al., 2016).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about OKUR-CHUNG NEURODEVELOPMENTAL SYNDROME; OCNDS

MRT61 is an autosomal recessive neurodevelopmental disorder characterized by delayed psychomotor development, moderate to severe intellectual disability, and variable dysmorphic facial features. More severely affected patients may develop refractory seizures and have brain abnormalities, including hypoplasia of the corpus callosum (summary by Alwadei et al., 2016).

MENTAL RETARDATION, AUTOSOMAL RECESSIVE 61; MRT61 Is also known as alwadei syndrome

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL RECESSIVE 61; MRT61

Top 5 symptoms//phenotypes associated to Hypertelorism and Highly arched eyebrow

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Abnormal facial shape Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Hypertelorism and Highly arched eyebrow. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases

Microcephaly

Uncommon Symptoms - Between 30% and 50% cases

Ptosis Long philtrum Scoliosis Synophrys Short stature Thin upper lip vermilion High palate Telecanthus Low-set ears Retrognathia Coarse facial features Short nose Absent speech Delayed speech and language development Downslanted palpebral fissures Hyperactivity Clinodactyly Thick eyebrow

Rare Symptoms - Less than 30% cases

Spasticity Growth delay Anteverted nares Postnatal microcephaly Microphthalmia Abnormality of the pinna Pachygyria Posteriorly rotated ears Hypoplasia of the corpus callosum Talipes equinovarus Joint laxity Behavioral abnormality Midface retrusion Upslanted palpebral fissure Aggressive behavior Oral cleft Hearing impairment Brachydactyly Tapered finger Depressed nasal bridge Smooth philtrum Blepharophimosis Bulbous nose Everted lower lip vermilion Micrognathia Protruding tongue Short columella Hypsarrhythmia Hallux valgus Interstitial pulmonary abnormality Exertional dyspnea Abnormality of digit Tracheomalacia Prominent nose Long eyelashes Bronchomalacia Parietal bossing Brain atrophy Bronchospasm Long face Unsteady gait Intercostal retractions Short middle phalanx of finger Abnormality of the hand Visual impairment Progressive microcephaly Respiratory distress Syndactyly Pectus excavatum Joint hypermobility Recurrent respiratory infections Decreased muscle mass Proptosis Dyspnea Tachypnea Polyhydramnios Respiratory tract infection Finger syndactyly Abnormality of the foot Thick vermilion border Broad thumb Decreased antibody level in blood Talipes Dolichocephaly Dysphagia Aplasia cutis congenita Short chin IgA deficiency Pes cavus Babinski sign Sandal gap Erythroderma Ureteral duplication Spontaneous abortion Ataxia Failure to thrive Feeding difficulties Hyperreflexia IgG deficiency Epicanthus Wide nasal bridge Constipation Pulmonary arterial hypertension Muscular hypotonia of the trunk High forehead Hypertension Myopia Poor speech EEG abnormality Atrial septal defect Hernia Cortical gyral simplification Delayed myelination Atonic seizures Wide intermamillary distance Renal agenesis Tetralogy of Fallot Optic disc pallor Mandibular prognathia Congenital diaphragmatic hernia Ventricular hypertrophy Attention deficit hyperactivity disorder Ventriculomegaly Retinal coloboma Abnormality of the skeletal system Palpebral edema Craniofacial hyperostosis Abnormality of the tongue Thick nasal alae Abnormal lip morphology Cataract Flexion contracture Cerebellar atrophy Large hands Macrotia Neonatal hypotonia Congenital cataract Tetraparesis Rhizomelia Spastic tetraparesis Progressive spastic quadriplegia Umbilical hernia Long nose Abnormality of the metacarpal bones Postnatal growth retardation Obsessive-compulsive behavior Anxiety Intellectual disability, moderate Thin vermilion border Triangular face Focal-onset seizure Generalized-onset seizure Nephrocalcinosis Unilateral renal agenesis Gingival overgrowth Hyperparathyroidism Obsessive-compulsive trait Intellectual disability, mild Joint hyperflexibility Macroglossia Sloping forehead Thick lower lip vermilion Thickened skin Hyperlordosis Craniosynostosis Long palpebral fissure Joint stiffness Mild microcephaly Duplication of thumb phalanx Sensorineural hearing impairment Short neck Abnormal heart morphology Agenesis of corpus callosum Cleft lip Wide mouth Dandy-Walker malformation Coloboma Arthrogryposis multiplex congenita Wide nose Webbed neck Heterotopia Pointed chin Lissencephaly Trigonocephaly Cerebellar vermis hypoplasia Developmental regression Hip dislocation Abnormal nasal morphology Downturned corners of mouth Spina bifida occulta Radioulnar synostosis Bilateral cryptorchidism Supernumerary nipple Diastasis recti Abnormal anterior chamber morphology Epicanthus inversus Deeply set eye Caudal appendage Large fleshy ears Limited pronation/supination of forearm Prominent coccyx Hydrocephalus Kyphosis Brachycephaly Autism Delayed ability to walk


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