Abnormal facial shape, and Highly arched eyebrow

Diseases related with Abnormal facial shape and Highly arched eyebrow

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


Top matches:

Medium match INTELLECTUAL DEVELOPMENTAL DISORDER WITH NEUROPSYCHIATRIC FEATURES; IDDNPF


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

Medium match EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 65; EIEE65


Early infantile epileptic encephalopathy-65 is characterized by onset of intractable seizures of various types within 6 months of birth, severe to profound psychomotor developmental delay, and mild facial dysmorphism (summary by Nakashima et al., 2018).For a general phenotypic description and a discussion of genetic heterogeneity of EIEE, see EIEE1 (OMIM ).

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Abnormal facial shape


SOURCES: OMIM MENDELIAN

More info about EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 65; EIEE65

Medium match EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 18; EIEE18


Early infantile epileptic encephalopathy-18 is a severe autosomal recessive neurologic disorder characterized by lack of psychomotor development apparent from birth, dysmorphic facial features, early onset of refractory seizures, and thick corpus callosum and persistent cavum septum pellucidum on brain imaging (summary by Basel-Vanagaite et al., 2013).For a general phenotypic description and a discussion of genetic heterogeneity of EIEE, see EIEE1 (OMIM ).

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Abnormal facial shape
  • Ptosis


SOURCES: OMIM ORPHANET MENDELIAN

More info about EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 18; EIEE18

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Other less relevant matches:

Medium match ACROMEGALOID FACIAL APPEARANCE SYNDROME


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

Medium match JOUBERT SYNDROME 35; JBTS35


Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Ataxia
  • Abnormal facial shape
  • Ptosis


SOURCES: OMIM MENDELIAN

More info about JOUBERT SYNDROME 35; JBTS35

Medium match MENTAL RETARDATION, AUTOSOMAL DOMINANT 27; MRD27


Related symptoms:

  • Intellectual disability
  • Short stature
  • Microcephaly
  • Growth delay
  • Abnormal facial shape


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 27; MRD27

Medium match SEVERE INTELLECTUAL DISABILITY-EPILEPSY-CATARACT SYNDROME DUE TO FATTY ACYL-COA REDUCTASE 1 DEFICIENCY


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

Medium match KLEEFSTRA SYNDROME 2; KLEFS2


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

Medium match MENTAL RETARDATION, AUTOSOMAL RECESSIVE 61; MRT61


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

Medium match SPASTIC PARAPLEGIA 52, AUTOSOMAL RECESSIVE; SPG52


Spastic quadriplegia-52 is an autosomal recessive neurodevelopmental disorder characterized by neonatal hypotonia that progresses to hypertonia and spasticity and severe mental retardation with poor or absent speech development (summary by Abou Jamra et al., 2011). Some patients may have seizures (Hardies et al., 2015).

SPASTIC PARAPLEGIA 52, AUTOSOMAL RECESSIVE; SPG52 Is also known as cerebral palsy, spastic quadriplegic, 6, formerly|cpsq6, formerly

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about SPASTIC PARAPLEGIA 52, AUTOSOMAL RECESSIVE; SPG52

Top 5 symptoms//phenotypes associated to Abnormal facial shape and Highly arched eyebrow

Symptoms // Phenotype % 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
Microcephaly Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
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Other less frequent symptoms

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

Common Symptoms - More than 50% cases


Hypertelorism

Uncommon Symptoms - Between 30% and 50% cases


Absent speech Ptosis Short stature Coarse facial features Spasticity High palate Short nose Everted lower lip vermilion Thick eyebrow Synophrys Hyperreflexia Low-set ears Bulbous nose Depressed nasal bridge Focal-onset seizure Downslanted palpebral fissures

Rare Symptoms - Less than 30% cases


Tapered finger Growth delay Anteverted nares Intellectual disability, mild Thin upper lip vermilion Smooth philtrum Long eyelashes Prominent nose Cerebellar vermis hypoplasia Babinski sign Scoliosis Talipes equinovarus Long nose Delayed speech and language development Hydrocephalus Aggressive behavior Muscular hypotonia of the trunk Talipes Midface retrusion Progressive microcephaly Cerebellar atrophy Flexion contracture Encephalopathy Neonatal hypotonia Hypsarrhythmia Epileptic encephalopathy Generalized-onset seizure EEG abnormality Posteriorly rotated ears Short philtrum Hyperactivity Thick vermilion border Abnormality of the columella Brachycephaly Upslanted palpebral fissure Kyphosis Abnormality of the nares Behavioral abnormality Hypoplastic fifth toenail Cataract Macrotia Loss of ability to walk Long philtrum Tetraparesis Rhizomelia Abnormality of the skeletal system Progressive spastic quadriplegia Spastic tetraparesis Congenital cataract Spastic paraplegia Facial hypotonia Brain atrophy Tetraplegia Febrile seizures Spastic tetraplegia Wide mouth Apnea Hypertonia Intellectual disability, severe Wide nasal bridge Motor delay Hearing impairment Delayed ability to walk Decreased muscle mass Postnatal microcephaly Long face Autism Unsteady gait Dolichocephaly Cerebral palsy Joint laxity Proportionate short stature Spastic diplegia Mandibular prognathia Pes cavus Hypoplasia of the corpus callosum Paraplegia Mild microcephaly Dandy-Walker malformation Developmental regression Deeply set eye Duplication of thumb phalanx Cone/cone-rod dystrophy Underdeveloped supraorbital ridges Respiratory tract infection Thick lower lip vermilion Sloping forehead Macroglossia Joint hyperflexibility Blepharophimosis Micrognathia Laterally extended eyebrow Thick corpus callosum Cavum septum pellucidum Loss of consciousness Drooling Absence seizures Cyanosis High forehead Gingival overgrowth Hyporeflexia Tented upper lip vermilion Abnormal pyramidal sign Cerebral atrophy Ventriculomegaly Obsessive-compulsive trait Hyperparathyroidism Unilateral renal agenesis Obsessive-compulsive behavior Nephrocalcinosis Triangular face Thin vermilion border Intellectual disability, moderate Anxiety Thickened skin Abnormality of the metacarpal bones Short chin Recurrent urinary tract infections Open mouth Hypertrichosis Short palpebral fissure Small nail Growth hormone deficiency Underdeveloped nasal alae Full cheeks Short distal phalanx of finger Clinodactyly Intrauterine growth retardation Molar tooth sign on MRI Oculomotor apraxia Multicystic kidney dysplasia Apraxia Large hands Progressive visual loss Nyctalopia Scarring Telecanthus Hydronephrosis Rod-cone dystrophy Blindness Visual impairment Ataxia Abnormal lip morphology Thick nasal alae Abnormality of the tongue Craniofacial hyperostosis Palpebral edema Simple febrile seizures



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