Abnormal facial shape, and Aggressive behavior

Diseases related with Abnormal facial shape and Aggressive behavior

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


Top matches:

Medium match MENTAL RETARDATION, AUTOSOMAL DOMINANT 50; MRD50


Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 50; MRD50

Medium match MENTAL RETARDATION, AUTOSOMAL DOMINANT 30; MRD30


Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 30; MRD30

Medium match MENTAL RETARDATION, X-LINKED 99; MRX99


Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Abnormal facial shape


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, X-LINKED 99; MRX99

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Other less relevant matches:

Medium match X-LINKED NON-SYNDROMIC INTELLECTUAL DISABILITY


Impaired mental functioning occurs as an isolated feature or as part of many syndromes listed in the X-linked catalog. Mental retardation that is not associated with other distinguishing features is referred to as 'nonspecific.' ClassificationOpitz and Sutherland (1984) reported on a conference in which fragile X mental retardation and X-linked mental retardation of numerous other types were discussed. The report contains a rather comprehensive discussion by Opitz of the nosology of X-linked mental retardation. Mulley et al. (1992) reviewed nomenclature guidelines for X-linked mental retardation.Raymond (2006) reviewed the diagnosis and classification of X-linked mental retardation and discussed the phenotypes associated with genes causing syndromic and nonsyndromic mental retardation.

X-LINKED NON-SYNDROMIC INTELLECTUAL DISABILITY Is also known as mrx|mrx18|mental retardation, x-linked 78|mrx78|mental retardation, x-linked 18

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about X-LINKED NON-SYNDROMIC INTELLECTUAL DISABILITY

Medium match MENTAL RETARDATION, AUTOSOMAL DOMINANT 49; MRD49


Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 49; MRD49

Medium match MENTAL RETARDATION, AUTOSOMAL RECESSIVE 15; MRT15


Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL RECESSIVE 15; MRT15

Medium match MENTAL RETARDATION, AUTOSOMAL DOMINANT 38; MRD38


MENTAL RETARDATION, AUTOSOMAL DOMINANT 38; MRD38 Is also known as psychomotor retardation, epilepsy, and language disability syndrome|prelds

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 38; MRD38

Medium match MENTAL RETARDATION, X-LINKED 30; MRX30


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

Medium match X-LINKED INTELLECTUAL DISABILITY-HYPOTONIA-FACIAL DYSMORPHISM-AGGRESSIVE BEHAVIOR SYNDROME


X-linked intellectual disability-hypotonia-facial dysmorphism-aggressive behavior syndrome is characterised by severe intellectual deficit, hypotonia, mild facial dysmorphism, and aggressive behaviour. It has been described in 10 male members spanning four generations of one family. The facial dysmorphism includes a high forehead, prominent ears, and a small pointed chin. Height and head circumference are reduced. This disorder is transmitted as an X-linked recessive trait and the causative gene maps to Xp22.

Related symptoms:

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Microcephaly
  • Abnormal facial shape


SOURCES: ORPHANET MENDELIAN

More info about X-LINKED INTELLECTUAL DISABILITY-HYPOTONIA-FACIAL DYSMORPHISM-AGGRESSIVE BEHAVIOR SYNDROME

Medium match INTELLECTUAL DISABILITY-STRABISMUS SYNDROME


Intellectual disability-strabismus syndrome is a rare, genetic, syndromic intellectual disability disorder characterized by moderate to severe intellectual disability and esotropia. Other associated features may include growth failure (underweight, failure to thrive, short stature), microcephaly, tone abnormalities (hypotonia, spasticity), epilepsy, behavioral problems (hyperactivity, aggressiveness), and/or abnormal brain morphology, including arachnoid cyst, cerebral atrophy, mild ventriculomegaly, abnormal CNS myelination or corpus callosum agenesis.

Related symptoms:

  • Intellectual disability
  • Generalized hypotonia
  • Microcephaly
  • Growth delay
  • Hypertelorism


SOURCES: ORPHANET OMIM MENDELIAN

More info about INTELLECTUAL DISABILITY-STRABISMUS SYNDROME

Top 5 symptoms//phenotypes associated to Abnormal facial shape and Aggressive behavior

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

Patients with Abnormal facial shape and Aggressive behavior. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Delayed speech and language development Hypertelorism Hyperactivity Upslanted palpebral fissure Epicanthus Depressed nasal bridge Intellectual disability, severe Strabismus Behavioral abnormality Absent speech Autistic behavior Short stature

Rare Symptoms - Less than 30% cases


High palate Short nose Obesity Growth delay Downturned corners of mouth Pointed chin Neonatal hypotonia Macrotia Open mouth Downslanted palpebral fissures Thin upper lip vermilion Autism Long face Prominent forehead Wide mouth Short chin Feeding difficulties Flat face Anxiety Anteverted nares Psychosis Tented upper lip vermilion Everted lower lip vermilion Drooling Generalized tonic-clonic seizures Deeply set eye Delayed gross motor development Cerebral atrophy Hypothyroidism Schizophrenia Myopathy Telecanthus Cognitive impairment Failure to thrive Long nose Intellectual disability, profound Triangular face Protruding ear EEG abnormality High forehead Delayed myelination Growth hormone deficiency Esotropia Long eyebrows Gait disturbance Skeletal muscle atrophy Long ear Short attention span Restlessness Agitation Ventriculomegaly Low-set ears Narrow palpebral fissure Broad eyebrow Esophagitis Relative macrocephaly Broad thumb Joint hypermobility Constipation Macrocephaly Mood swings Intellectual disability, mild Hypermetropia Ptosis Hearing impairment Heterotaxy Mutism Abnormal heart morphology Atrial septal defect Motor delay Brachycephaly Poor speech Overweight Short philtrum Polyphagia Truncal obesity Prominent nose Wide nose Smooth philtrum Dolichocephaly Intellectual disability, moderate Postnatal microcephaly Malar flattening Wide nasal bridge Sandal gap Clinodactyly Long philtrum Abnormality of the head Plagiocephaly Neurodevelopmental delay



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