Failure to thrive, and Highly arched eyebrow

Diseases related with Failure to thrive and Highly arched eyebrow

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


Top matches:

High match NEURODEVELOPMENTAL DISORDER WITH MOVEMENT ABNORMALITIES, ABNORMAL GAIT, AND AUTISTIC FEATURES; NEDMAGA


NEDMAGA is a neurodevelopmental disorder characterized by infantile-onset global developmental delay with severe to profound intellectual disability, mildly delayed walking with broad-based and unsteady gait, and absence of meaningful language. Patients have features of autism, with repetitive behaviors and poor communication, but usually are socially reactive and have a happy demeanor. More variable neurologic features include mild seizures, spasticity, and peripheral neuropathy (summary by Palmer et al., 2017).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about NEURODEVELOPMENTAL DISORDER WITH MOVEMENT ABNORMALITIES, ABNORMAL GAIT, AND AUTISTIC FEATURES; NEDMAGA

High match BAINBRIDGE-ROPERS SYNDROME; BRPS


Bainbridge-Ropers syndrome (BRPS) is a developmental disorder characterized by delayed psychomotor development, severe intellectual disability with poor or absent speech, hypotonia, feeding difficulties, poor growth, and dysmorphic facial features (summary by Srivastava et al., 2016).

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about BAINBRIDGE-ROPERS SYNDROME; BRPS

High match MENTAL RETARDATION, AUTOSOMAL DOMINANT 22; MRD22


Chromosome 1q43-q44 deletion syndrome is characterized by moderate to severe mental retardation, limited or no speech, and variable but characteristic facial features, including round face, prominent forehead, flat nasal bridge, hypertelorism, epicanthal folds, and low-set ears. Other features may include hypotonia, poor growth, microcephaly, agenesis of the corpus callosum, and seizures. The phenotype is variable, and not all features are observed in all patients, which may be explained in some cases by incomplete penetrance or variable expressivity (summary by Ballif et al., 2012).Patients with autosomal dominant mental retardation-22 have a phenotype similar to that in patients with chromosome 1q43-q44 deletion syndrome (de Munnik et al., 2014).

Related symptoms:

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


SOURCES: MESH OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 22; MRD22

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Other less relevant matches:

High match OKUR-CHUNG NEURODEVELOPMENTAL SYNDROME; OCNDS


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

High match AUTISM SPECTRUM DISORDER DUE TO AUTS2 DEFICIENCY


Autism spectrum disorder due to AUTS2 deficiency is a rare genetic syndromic intellectual disability characterized by global developmental delay and borderline to severe intellectual disability, autism spectrum disorder with obsessive behavior, stereotypies, hyperactivity but frequently friendly and affable personality, feeding difficulties, short stature, muscular hypotonia, microcephaly, characteristic dysmorphic features (hypertelorism, high arched eyebrows, ptosis, deep and/or broad nasal bridge, broad/prominent nasal tip, short and/or upturned philtrum, narrow mouth, and micrognathia), and skeletal anomalies (kyphosis and/or scoliosis, arthrogryposis, slender habitus and extremities). Other clinical features may include hernias, congenital heart defects, cryptorchidism and seizures.

AUTISM SPECTRUM DISORDER DUE TO AUTS2 DEFICIENCY Is also known as asd due to auts2 deficiency|auts2 syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about AUTISM SPECTRUM DISORDER DUE TO AUTS2 DEFICIENCY

High match RUBINSTEIN-TAYBI SYNDROME DUE TO EP300 HAPLOINSUFFICIENCY


Rubinstein-Taybi syndrome (RSTS) is a multiple congenital anomaly syndrome characterized by mental retardation, postnatal growth deficiency, microcephaly, broad thumbs and halluces, and dysmorphic facial features. The classic facial appearance is striking, with highly arched eyebrows, long eyelashes, downslanting palpebral fissures, broad nasal bridge, beaked nose with the nasal septum, highly arched palate, mild micrognathia, and characteristic grimacing or abnormal smile (Rubinstein and Taybi, 1963; review by Hennekam, 2006).About 50 to 70% of patients have RSTS1 due to mutation in the CREBBP gene (OMIM ). RSTS2 is much less common, and about 3% of patients have mutations in the EP300 gene. RSTS2 appears to be associated with a milder phenotype than RSTS1. Patients with RSTS2 have less severe facial dysmorphism and better cognitive function, but may have more severe microcephaly and malformation of facial bone structures compared to those with RSTS1 (Bartsch et al., 2010).For a discussion of genetic heterogeneity of Rubinstein-Taybi syndrome, see RSTS1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Microcephaly
  • Scoliosis


SOURCES: ORPHANET OMIM MENDELIAN

More info about RUBINSTEIN-TAYBI SYNDROME DUE TO EP300 HAPLOINSUFFICIENCY

High match KLEEFSTRA SYNDROME DUE TO 9Q34 MICRODELETION


KLEEFSTRA SYNDROME DUE TO 9Q34 MICRODELETION Is also known as kleefstra syndrome due to del(9)(q34)|9q subtelomeric deletion syndrome|kleefstra syndrome due to 9q subtelomeric deletion|kleefstra syndrome due to monosomy 9q34|9qstds

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Microcephaly


SOURCES: ORPHANET MENDELIAN

More info about KLEEFSTRA SYNDROME DUE TO 9Q34 MICRODELETION

High match POLYHYDRAMNIOS-MEGALENCEPHALY-SYMPTOMATIC EPILEPSY SYNDROME


POLYHYDRAMNIOS-MEGALENCEPHALY-SYMPTOMATIC EPILEPSY SYNDROME Is also known as pmse syndrome

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about POLYHYDRAMNIOS-MEGALENCEPHALY-SYMPTOMATIC EPILEPSY SYNDROME

High match 6Q TERMINAL DELETION SYNDROME


6q terminal deletion syndrome is marked by a characteristic facial dysmorphism, short neck and psychomotor retardation, generally associated with a range of non-specific malformations.

Related symptoms:

  • Seizures
  • Global developmental delay
  • Scoliosis
  • Hypertelorism
  • Nystagmus


SOURCES: ORPHANET MENDELIAN

More info about 6Q TERMINAL DELETION SYNDROME

High match CONGENITAL LACTIC ACIDOSIS, SAGUENAY-LAC-SAINT-JEAN TYPE


Saguenay-Lac-St. Jean (SLSJ) type congenital lactic acidosis, a French Canadian form of Leigh syndrome (see this term), is a mitochondrial disease characterized by chronic metabolic acidosis, hypotonia, facial dysmorphism and delayed development.

CONGENITAL LACTIC ACIDOSIS, SAGUENAY-LAC-SAINT-JEAN TYPE Is also known as cytochrome oxidase deficiency, saguenay-lac-saint-jean type|cytochrome c oxidase deficiency, french canadian type|cytochrome c oxidase deficiency, french-canadian type|cox deficiency, french canadian type|leigh syndrome, french-canadian type|slsj-cox defi

Related symptoms:

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


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about CONGENITAL LACTIC ACIDOSIS, SAGUENAY-LAC-SAINT-JEAN TYPE

Top 5 symptoms//phenotypes associated to Failure to thrive and Highly arched eyebrow

Symptoms // Phenotype % cases
Global developmental delay Very Common - Between 80% and 100% cases
Intellectual disability Very Common - Between 80% and 100% cases
Seizures Very Common - Between 80% and 100% cases
Hypertelorism Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Failure to thrive 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


Feeding difficulties

Common Symptoms - More than 50% cases


Abnormal facial shape

Uncommon Symptoms - Between 30% and 50% cases


Absent speech

Common Symptoms - More than 50% cases


Delayed speech and language development

Uncommon Symptoms - Between 30% and 50% cases


Prominent forehead Scoliosis Strabismus Wide nasal bridge Low-set ears Growth delay Anteverted nares Micrognathia Autism Short nose Macrocephaly High palate Short stature Spasticity Downturned corners of mouth Wide mouth Muscular hypotonia Intellectual disability, mild Hypoplasia of the corpus callosum Short palpebral fissure Cryptorchidism Open mouth Joint laxity Everted lower lip vermilion Downslanted palpebral fissures

Rare Symptoms - Less than 30% cases


Dystonia Shock Agenesis of corpus callosum Epicanthus Thin upper lip vermilion Cerebellar hypoplasia Premature birth Hirsutism Short philtrum Small for gestational age Status epilepticus Dysphagia Protruding tongue Wide intermamillary distance Ptosis Ataxia Prominent nasal tip Prominent metopic ridge Long nose Absence seizures Synophrys Low anterior hairline Poor speech Thick vermilion border Behavioral abnormality Autistic behavior Clinodactyly Brachycephaly Microretrognathia Hypospadias Widely spaced teeth Ventriculomegaly Severe global developmental delay Thick eyebrow Cerebral cortical atrophy Broad-based gait Inability to walk Hyperactivity Constipation Myopia Atrial septal defect Midface retrusion Hypertonia Obesity Abnormal cardiac septum morphology Depressed nasal bridge Postnatal growth retardation Large forehead Dysphasia Astrocytosis Thick upper lip vermilion Thick lower lip vermilion Aphasia Absent septum pellucidum Multifocal epileptiform discharges Apathy Minimal subcutaneous fat Hyperplasia of midface Mutism Hypovolemic shock Aortic regurgitation Flat occiput Abnormality of the testis Facial hypotonia Cerebral cortical hemiatrophy Focal-onset seizure Long face Increased body weight Leukemia Difficulty walking Nephrocalcinosis High forehead Congestive heart failure Drooling Tented upper lip vermilion Epileptic spasms Conotruncal defect Subcortical cerebral atrophy Focal impaired awareness seizure Diabetes insipidus Femoral hernia Decreased muscle mass Megalencephaly Narrow face Echolalia Polyhydramnios Abnormality of neuronal migration Nystagmus Decreased liver function Hypertrophic cardiomyopathy Developmental regression Stroke Lactic acidosis Hepatic steatosis Metabolic acidosis Coma Gliosis Increased serum lactate Peripheral demyelination Intention tremor Truncal ataxia Acidosis Leukoencephalopathy Tachypnea Poor suck Hyperglycemia Anteriorly placed anus Increased CSF lactate Stroke-like episode Breathing dysregulation CNS demyelination Microvesicular hepatic steatosis Congenital lactic acidosis Hypoglycemia Malar flattening Short neck Gynecomastia Hyperkeratosis Gait ataxia Low-set, posteriorly rotated ears Dolichocephaly Abnormality of the cerebral white matter Hypermetropia Dysmetria Polymicrogyria High, narrow palate Hypsarrhythmia Heterotopia Plagiocephaly Cardiomyopathy Infantile muscular hypotonia Hallux valgus Broad philtrum Colpocephaly Talipes calcaneovalgus Periventricular gray matter heterotopia Phimosis Aplasia/Hypoplasia of the ribs Abnormality of the cerebral cortex Tremor Respiratory distress Aortic valve stenosis Retrognathia Coarctation of aorta Muscular hypotonia of the trunk Delayed ability to walk Severe postnatal growth retardation Ulnar deviation of the hand Cleft palate Motor delay Intellectual disability, severe Long philtrum Deeply set eye Telecanthus Abnormality of the pinna Hypoplasia of the brainstem Protruding ear Neurological speech impairment Smooth philtrum Thin vermilion border Wide nose Bifid uvula Round face Partial agenesis of the corpus callosum Bruxism Long upper lip Disproportionate tall stature Trigonocephaly Attention deficit hyperactivity disorder Progressive spasticity Pain Peripheral neuropathy Hyporeflexia Gastroesophageal reflux Unsteady gait Esotropia Stereotypy Progressive microcephaly Prominent supraorbital ridges Tics Short chin Broad columella Happy demeanor Upslanted palpebral fissure Pes planus Prominent nasal bridge Arachnodactyly Bulbous nose Broad nasal tip Tall stature Dental crowding Brachydactyly Joint hypermobility Hypoplasia of penis Posterior helix pit Narrow palate Delayed gross motor development Overlapping toe Broad hallux Low hanging columella Preeclampsia Overbite Pes valgus Mild myopia Hearing impairment Broad thumb Renal insufficiency Depressivity Inguinal hernia Anxiety Irritability Sleep disturbance Macroglossia Vesicoureteral reflux Specific learning disability Tetralogy of Fallot Long eyelashes Convex nasal ridge Decreased antibody level in blood Arthrogryposis multiplex congenita Pachygyria Cortical gyral simplification Atonic seizures IgA deficiency IgG deficiency Flexion contracture Hyperreflexia Abnormality of the skeletal system Kyphosis Narrow mouth Cerebral palsy Prominent nose Wide nasal base Decreased palmar creases Cognitive impairment Intrauterine growth retardation Syndactyly Delayed skeletal maturation Carious teeth Genu valgum Intestinal malrotation Dental malocclusion Increased hepatocellular lipid droplets



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