Hypertelorism, and Thick eyebrow

Diseases related with Hypertelorism and Thick eyebrow

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

Top matches:

Primary microcephaly (MCPH) is a clinical diagnosis made when an individual has a head circumference more than 3 standard deviations below the age- and sex-matched population mean and mental retardation, with no other associated malformations and with no apparent etiology. Most cases of primary microcephaly show an autosomal recessive mode of inheritance (summary by Woods et al., 2005).For a general phenotypic description and a discussion of genetic heterogeneity of primary microcephaly, see MCPH1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Microcephaly
  • Hypertelorism


SOURCES: OMIM MESH MENDELIAN

More info about MICROCEPHALY 4, PRIMARY, AUTOSOMAL RECESSIVE; MCPH4

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

Tatton-Brown-Rahman syndrome is characterized by tall stature, a distinctive facial appearance, and intellectual disability (Tatton-Brown et al., 2014).

TALL STATURE-INTELLECTUAL DISABILITY-FACIAL DYSMORPHISM SYNDROME Is also known as dnmt3a-related overgrowth syndrome|tatton-brown-rahman overgrowth syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about TALL STATURE-INTELLECTUAL DISABILITY-FACIAL DYSMORPHISM SYNDROME

Other less relevant matches:

Waardenburg syndrome type 1 is an autosomal dominant auditory-pigmentary syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes; congenital sensorineural hearing loss; and 'dystopia canthorum,' the lateral displacement of the ocular inner canthi (reviews by Read and Newton, 1997, Tamayo et al., 2008, and Pingault et al., 2010). Clinical Variability of Waardenburg Syndrome Types 1-4Waardenburg syndrome is an auditory-pigmentary syndrome characterized by pigmentary abnormalities of the hair, including a white forelock and premature graying; pigmentary changes of the iris, such as heterochromia irides and brilliant blue eyes; and congenital sensorineural hearing loss. Waardenburg syndrome has been classified into 4 main phenotypes. WS type 1 is distinguished by the presence of dystopia canthorum. WS type 2 (WS2; see {193510}) is distinguished from type 1 by the absence of dystopia canthorum. WS type 3 (WS3 ) has dystopia canthorum and upper limb abnormalities. WS type 4 (WS4; see {277580}), also known as Waardenburg-Shah syndrome, has the additional feature of Hirschsprung disease (reviews by Read and Newton, 1997 and Tamayo et al., 2008). Genetic Heterogeneity of All Types of Waardenburg SyndromeWaardenburg syndrome is genetically heterogeneous. WS1 and WS3 are both caused by mutation in the PAX3 gene. See WS2A (OMIM ) for a discussion of genetic heterogeneity of WS type 2, and WS4A (OMIM ) for a discussion of genetic heterogeneity of WS type 4.

WAARDENBURG SYNDROME, TYPE 1; WS1 Is also known as waardenburg syndrome with dystopia canthorum

Related symptoms:

  • Hearing impairment
  • Hypertelorism
  • Sensorineural hearing impairment
  • Wide nasal bridge
  • Mandibular prognathia


SOURCES: OMIM MENDELIAN

More info about WAARDENBURG SYNDROME, TYPE 1; WS1

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

COGNITIVE IMPAIRMENT-COARSE FACIES-HEART DEFECTS-OBESITY-PULMONARY INVOLVEMENT-SHORT STATURE-SKELETAL DYSPLASIA SYNDROME Is also known as chops syndrome|cognitive impairment, coarse facies, heart defects, obesity, pulmonary involvement, short stature, and skeletal dysplasia

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Hypertelorism


SOURCES: ORPHANET OMIM MENDELIAN

More info about COGNITIVE IMPAIRMENT-COARSE FACIES-HEART DEFECTS-OBESITY-PULMONARY INVOLVEMENT-SHORT STATURE-SKELETAL DYSPLASIA SYNDROME

Coffin-Siris syndrome-7 is an autosomal dominant neurodevelopmental disorder characterized by global developmental delay with mild to moderate intellectual disability, speech impairment, behavioral abnormalities, poor overall growth, coarse facial features, and hypoplastic fifth toenails (summary by Vasileiou et al., 2018).For a general phenotypic description and a discussion of genetic heterogeneity of Coffin-Siris syndrome, see CSS1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Hypertelorism


SOURCES: OMIM MENDELIAN

More info about COFFIN-SIRIS SYNDROME 7; CSS7

Among the Yakuts, an Asian population isolate that is located in the northeastern part of Siberia, Maksimova et al. (2010) ascertained a short stature syndrome involving autosomal recessive postnatal growth failure, small hands and feet, loss of visual acuity with abnormalities of color vision, abnormal nuclear shape in neutrophil granulocytes (Pelger-Huet anomaly; see {169400}), and normal intelligence.

SHORT STATURE-OPTIC ATROPHY-PELGER-HUËT ANOMALY SYNDROME Is also known as soph syndrome

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Growth delay
  • Hypertelorism
  • Strabismus


SOURCES: OMIM ORPHANET MENDELIAN

More info about SHORT STATURE-OPTIC ATROPHY-PELGER-HUËT ANOMALY SYNDROME

DeSanto-Shinawi syndrome is a rare neurodevelopmental disorder characterized by global developmental delay apparent in infancy or early childhood and associated with characteristic dysmorphic facial features, such as broad forehead, depressed nasal bridge with bulbous nasal tip, and deep-set eyes. Most patients also have gastrointestinal and mild ocular abnormalities, as well as behavioral problems (summary by DeSanto et al., 2015).

FACIAL DYSMORPHISM-DEVELOPMENTAL DELAY-BEHAVIORAL ABNORMALITIES SYNDROME DUE TO WAC POINT MUTATION Is also known as developmental delay, behavioral abnormalities, facial dysmorphism, and ocular abnormalities

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about FACIAL DYSMORPHISM-DEVELOPMENTAL DELAY-BEHAVIORAL ABNORMALITIES SYNDROME DUE TO WAC POINT MUTATION

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 Thick eyebrow

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Coarse facial features Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Synophrys Common - Between 50% and 80% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Delayed speech and language development Global developmental delay Short stature Abnormal facial shape Aggressive behavior Hearing impairment Hyperactivity Brachycephaly Brachydactyly Abnormal cardiac septum morphology Highly arched eyebrow Scoliosis Bulbous nose Posteriorly rotated ears Blepharophimosis Mandibular prognathia Strabismus Microcephaly

Rare Symptoms - Less than 30% cases

Myopia Downslanted palpebral fissures Short neck Long face Sensorineural hearing impairment Hypoplasia of the corpus callosum High palate Optic atrophy Behavioral abnormality Short nose Midface retrusion Deeply set eye Hypermetropia Abnormality of the skeletal system Thin upper lip vermilion Prominent forehead Proptosis Constipation Downturned corners of mouth Long eyelashes Depressed nasal bridge Feeding difficulties Round face Wide nasal bridge Low-set ears Hydrocephalus Micrognathia Sloping forehead Tapered finger Everted lower lip vermilion Cerebellar vermis hypoplasia Wide nose Muscular hypotonia of the trunk Otitis media EEG abnormality Pes cavus Sparse scalp hair Microdontia Neurological speech impairment Babinski sign Talipes equinovarus Recurrent otitis media Hyperreflexia Spasticity Inverted nipples Joint laxity Feeding difficulties in infancy Dolichocephaly Craniosynostosis Wide mouth Agitation Talipes Unsteady gait Brain atrophy Prominent nose Hypsarrhythmia Postnatal microcephaly Abnormal heart morphology Clinodactyly Progressive microcephaly Decreased muscle mass Recurrent aspiration pneumonia Arnold-Chiari malformation Abnormality of the pinna Attention deficit hyperactivity disorder Cutis laxa Progressive visual loss Narrow forehead Fine hair Chronic lung disease Astigmatism Sandal gap Dyschromatopsia Small hand Achromatopsia Prominent glabella Blue cone monochromacy Hyposegmentation of neutrophil nuclei Nonprogressive visual loss Broad forehead Anxiety Single transverse palmar crease Thin vermilion border Trigonocephaly Sleep disturbance Broad philtrum Sagittal craniosynostosis Small pituitary gland Growth delay Muscular hypotonia Epicanthus Full cheeks Blindness Hirsutism Long philtrum Syndactyly Delayed skeletal maturation Reduced visual acuity Postnatal growth retardation Facial asymmetry Micromelia Thick hair Duplication of thumb phalanx Tracheal stenosis Tall stature Anteverted nares Atrial septal defect Hernia Polyhydramnios Umbilical hernia Premature birth Overgrowth Narrow palpebral fissure Macrocephaly Deep philtrum Long palpebral fissure Short columella Maternal diabetes Everted upper lip vermilion Premature rupture of membranes Telecanthus Prominent nasal bridge Ventricular septal defect Abnormal lip morphology Oral cleft Macroglossia Ventriculomegaly Intellectual disability, moderate Impulsivity Cortical gyral simplification Bimanual synkinesia Intellectual disability, mild Joint hyperflexibility Thick lower lip vermilion Thick nasal alae Thickened skin Gingival overgrowth Abnormality of the metacarpal bones Large hands Long nose Palpebral edema Craniofacial hyperostosis Abnormality of the tongue Smooth philtrum Abnormality of skin pigmentation Aspiration pneumonia Obesity Autism Developmental regression Dandy-Walker malformation Mild microcephaly Cataract Cryptorchidism Cognitive impairment Patent ductus arteriosus Absent speech Pneumonia Gastroesophageal reflux Vesicoureteral reflux Abnormal lung morphology Abnormal vertebral morphology Aspiration Horseshoe kidney Laryngomalacia Upslanted palpebral fissure Kyphosis Hypopigmentation of the skin Heterochromia iridis Underdeveloped nasal alae Aganglionic megacolon Spina bifida Congenital sensorineural hearing impairment Premature graying of hair Sprengel anomaly Blue irides Myelomeningocele White forelock Ptosis Hypopigmentation of the fundus Supernumerary ribs Partial albinism White eyelashes White eyebrow Hypoplastic iris stroma Aplasia of the vagina Supernumerary vertebrae Delayed ability to walk


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