High palate, and Hyperactivity

Diseases related with High palate and Hyperactivity

In the following list you will find some of the most common rare diseases related to High palate and Hyperactivity that can help you solving undiagnosed cases.

Top matches:

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 49; MRD49

MENTAL RETARDATION, X-LINKED 30; MRX30 Is also known as mental retardation, x-linked 47|mrx47

Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Microcephaly
  • High palate


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, X-LINKED 30; MRX30

INTELLECTUAL DISABILITY-EXPRESSIVE APHASIA-FACIAL DYSMORPHISM SYNDROME Is also known as intellectual disability-loss of expressive language-facial dysmorphism syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about INTELLECTUAL DISABILITY-EXPRESSIVE APHASIA-FACIAL DYSMORPHISM SYNDROME

Other less relevant matches:

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

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

Congenital Tufting Enteropathy is a rare congenital enteropathy presenting with early-onset severe and intractable diarrhea that leads to irreversible intestinal failure.

CONGENITAL TUFTING ENTEROPATHY Is also known as intestinal epithelial cell dysplasia|enteropathy, congenital tufting|ied|cte|intestinal epithelial dysplasia

Related symptoms:

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Microcephaly
  • Hypertelorism


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about CONGENITAL TUFTING ENTEROPATHY

High match CK SYNDROME

CK syndrome is a rare, genetic, X-linked syndromic intellectual disability disorder characterized by mild to severe intellectual disability, infancy-onset seizures, post-natal microcephaly, cerebral cortical malformations, dysmorphic facial features (including long, narrow face, almond-shaped palpebral fissures, epicanthic folds, high nasal bridge, malar flattening, posteriorly rotated ears, high arched palate, crowded teeth, micrognathia) and thin body habitus. Long and slim fingers/toes, strabismus, hypotonia, spasticity, optic disc atrophy, and behavioral problems (aggression, attention deficit hyperactivity disorder and irritability) are additional features.

CK SYNDROME Is also known as x-linked intellectual disability-microcephaly-cortical malformation-thin habitus syndrome|mental retardation, x-linked, with thin body habitus and cortical malformation

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about CK SYNDROME

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about ALAZAMI-YUAN SYNDROME; ALYUS

MRXSB is an X-linked dominant neurodevelopmental disorder characterized by delayed psychomotor development, intellectual disability with behavioral abnormalities, and dysmorphic facial features. Additional variable features include musculoskeletal abnormalities, seizures, acquired microcephaly, and feeding problems with poor overall growth. Only females are affected (summary by Bain et al., 2016).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, X-LINKED, SYNDROMIC, BAIN TYPE; MRXSB

High match LEGIUS SYNDROME

Legius syndrome, also known as NF1-like syndrome, is a rare, genetic skin pigmentation disorder characterized by multiple café-au-lait macules with or without axillary or inguinal freckling.

LEGIUS SYNDROME Is also known as nfls|neurofibromatosis type 1-like syndrome|nf1-like syndrome|neurofibromatosis 1-like syndrome

Related symptoms:

  • Generalized hypotonia
  • Hypertelorism
  • Neoplasm
  • Micrognathia
  • Abnormal facial shape


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about LEGIUS SYNDROME

Top 5 symptoms//phenotypes associated to High palate and Hyperactivity

Symptoms // Phenotype % cases
Generalized hypotonia Very Common - Between 80% and 100% cases
Intellectual disability Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Abnormal facial shape Common - Between 50% and 80% cases
Hypertelorism Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with High palate and Hyperactivity. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases

Microcephaly

Uncommon Symptoms - Between 30% and 50% cases

Seizures

Common Symptoms - More than 50% cases

Delayed speech and language development

Uncommon Symptoms - Between 30% and 50% cases

Aggressive behavior Synophrys Short stature Micrognathia Upslanted palpebral fissure Scoliosis Absent speech Epicanthus Dental crowding Strabismus Thick eyebrow Highly arched eyebrow Thin upper lip vermilion Posteriorly rotated ears Attention deficit hyperactivity disorder Autism Long face Ptosis Short nose Downslanted palpebral fissures

Rare Symptoms - Less than 30% cases

Behavioral abnormality Cafe-au-lait spot Dolichocephaly Prominent nose Kyphosis Midface retrusion Developmental regression Spasticity Joint laxity Postnatal microcephaly Failure to thrive Hyperlordosis Prominent nasal bridge Feeding difficulties Underdeveloped nasal alae EEG abnormality Long eyelashes Brachycephaly Anxiety Long philtrum Wide mouth Pointed chin Low-set ears Unilateral cryptorchidism Short columella Broad hallux Curly eyelashes Low anterior hairline Wide intermamillary distance Depressed nasal bridge Single transverse palmar crease Hirsutism Ataxia Poor speech Neonatal hypotonia Narrow chest Hypertonia Narrow mouth Cryptorchidism Almond-shaped palpebral fissure Slender build Abnormal cortical bone morphology Abnormality of digit Narrow face Pachygyria Sleep disturbance Polymicrogyria Joint hypermobility Obesity Irritability Gait disturbance Gait ataxia Constipation Short neck Lisch nodules Neoplasm of the lung Multiple cafe-au-lait spots Freckling Abnormality of the sternum Multiple lipomas Neurofibromas Low posterior hairline Specific learning disability Triangular face High, narrow palate Abnormality of skin pigmentation Low-set, posteriorly rotated ears Macrocephaly Retrognathia Neoplasm Obsessive-compulsive behavior Self-injurious behavior Stereotypy Thick lower lip vermilion Short palpebral fissure Hypotelorism Abnormal cerebellum morphology Thick vermilion border Pectus carinatum Short philtrum Autistic behavior Pes planus Gastroesophageal reflux Clinodactyly Vaginal fistula Malar flattening Flat face Mandibular prognathia Intellectual disability, severe Pes cavus Babinski sign Hypoplasia of the corpus callosum Talipes equinovarus Hyperreflexia Macrotia Duplication of thumb phalanx Mild microcephaly Cerebellar vermis hypoplasia Dandy-Walker malformation Everted lower lip vermilion Psychosis Anteverted nares Deeply set eye Coarse facial features Open mouth Drooling Delayed gross motor development Hydrocephalus Schizophrenia Agitation Narrow palate Restlessness Short attention span Long ear Motor delay Muscular hypotonia of the trunk Talipes Cognitive impairment Anal atresia Intellectual disability, mild Secretory diarrhea Intractable diarrhea Trichorrhexis nodosa Villous atrophy Choanal stenosis Underdeveloped supraorbital ridges Celiac disease Long nose Abnormal intestine morphology Sloping forehead Sepsis Abdominal distention Small for gestational age Unsteady gait Coloboma Blepharophimosis Arthritis Diarrhea Downturned corners of mouth Delayed ability to walk Decreased muscle mass Progressive microcephaly Narrow palpebral fissure Hypsarrhythmia Sandal gap Brain atrophy Tapered finger Bulbous nose Axillary freckling


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