Abnormality of the skeletal system, and Attention deficit hyperactivity disorder

Diseases related with Abnormality of the skeletal system and Attention deficit hyperactivity disorder

In the following list you will find some of the most common rare diseases related to Abnormality of the skeletal system and Attention deficit hyperactivity disorder that can help you solving undiagnosed cases.


Top matches:

Low match ATTENTION DEFICIT-HYPERACTIVITY DISORDER; ADHD


A behavior disorder in which the essential features are signs of developmentally inappropriate inattention, impulsivity, and hyperactivity.

ATTENTION DEFICIT-HYPERACTIVITY DISORDER; ADHD Is also known as hyperactivity of childhood

Related symptoms:

  • Depressivity
  • Hyperactivity
  • Autism
  • Anxiety
  • Attention deficit hyperactivity disorder


SOURCES: OMIM MENDELIAN

More info about ATTENTION DEFICIT-HYPERACTIVITY DISORDER; ADHD

Low match MENTAL RETARDATION, AUTOSOMAL RECESSIVE 2; MRT2


MENTAL RETARDATION, AUTOSOMAL RECESSIVE 2; MRT2 Is also known as mental retardation, autosomal recessive 2a|mrt2a

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Delayed speech and language development
  • Intellectual disability, severe


SOURCES: OMIM MESH MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL RECESSIVE 2; MRT2

Low match MENTAL RETARDATION, AUTOSOMAL RECESSIVE 54; MRT54


Related symptoms:

  • Intellectual disability
  • Delayed speech and language development
  • Hyperactivity
  • Attention deficit hyperactivity disorder
  • Exaggerated startle response


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL RECESSIVE 54; MRT54

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Other less relevant matches:

Low match THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT; GRTH


Decreased response to thyroid hormones in peripheral tissues and in the pituitary gland.

THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT; GRTH Is also known as thyroid hormone unresponsiveness|gthr|hyperthyroxinemia, familial euthyroid, secondary to pituitary and peripheral resistance to thyroid hormones

Related symptoms:

  • Delayed speech and language development
  • Hyperactivity
  • Attention deficit hyperactivity disorder
  • Goiter
  • Hyperthyroidism


SOURCES: OMIM MESH MENDELIAN

More info about THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT; GRTH

Low match FAMILIAL ALZHEIMER-LIKE PRION DISEASE


Familial Alzheimer-like prion disease is an exceedingly rare form of prion disease (see this term) characterized by the neuropathological features of Alzheimer disease including memory impairment and depression, related to abnormal prion protein (PrP) caused by a gene mutation in PRNP. Patients present with a prolonged, atypical course (absence of myoclonus or ataxia) unlike other forms of prion disease with severe neurofibrillary tangle pathology and high levels of cerebral amyloidosis.

Related symptoms:

  • Cognitive impairment
  • Behavioral abnormality
  • Depressivity
  • Anxiety
  • Attention deficit hyperactivity disorder


SOURCES: ORPHANET MENDELIAN

More info about FAMILIAL ALZHEIMER-LIKE PRION DISEASE

Low match PERIVENTRICULAR NODULAR HETEROTOPIA 8; PVNH8


Periventricular nodular heterotopia-8 (PVNH8) is a neurologic disorder characterized by abnormal neuronal migration during brain development, resulting in delayed psychomotor development. Three patients have been reported (Ge et al., 2016).For a phenotypic description and a discussion of genetic heterogeneity of periventricular heterotopia, see PVNH1 (OMIM ).

Related symptoms:

  • Seizures
  • Global developmental delay
  • Spasticity
  • Delayed speech and language development
  • Hyperactivity


SOURCES: OMIM MENDELIAN

More info about PERIVENTRICULAR NODULAR HETEROTOPIA 8; PVNH8

Low match MENTAL RETARDATION, X-LINKED, SYNDROMIC, HOUGE TYPE; MRXSHG


The Houge type of X-linked syndromic mental retardation is characterized by delayed development, intellectual disability, speech and language delay, and early-onset seizures. EEG tends to show continuous spike-wave activity or centrotemporal spikes. Some patients may have remission of seizures by adolescence. Carrier females may be mildly affected (summary by Damiano et al., 2017).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Cognitive impairment
  • Delayed speech and language development


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, X-LINKED, SYNDROMIC, HOUGE TYPE; MRXSHG

Low match MENTAL RETARDATION, AUTOSOMAL DOMINANT 45; MRD45


Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Delayed speech and language development


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 45; MRD45

Low match RECESSIVE X-LINKED ICHTHYOSIS


Recessive X-linked ichthyosis (RXLI) is a genodermatosis belonging to the Mendelian Disorders of Cornification (MeDOC) and characterized by generalized hyperkeratosis and scaling of the skin.

RECESSIVE X-LINKED ICHTHYOSIS Is also known as x-linked ichthyosis|rxli|xli|steroid sulfatase deficiency

Related symptoms:

  • Cryptorchidism
  • Hyperkeratosis
  • Autism
  • Attention deficit hyperactivity disorder
  • Neurological speech impairment


SOURCES: ORPHANET MENDELIAN

More info about RECESSIVE X-LINKED ICHTHYOSIS

Low match LANGUAGE DELAY AND ATTENTION DEFICIT-HYPERACTIVITY DISORDER/COGNITIVE IMPAIRMENT WITH OR WITHOUT CARDIAC ARRHYTHMIA; LADCI


LADCI is an autosomal recessive neurodevelopmental disorder characterized by severe expressive and receptive language delay apparent from early childhood. Affected individuals have additional developmental or behavioral abnormalities, including attention deficit, hyperactivity, or mild intellectual disability. Some patients develop cardiac arrhythmias reminiscent of sick sinus syndrome (summary by Lodder et al., 2016 and Shamseldin et al., 2016).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Delayed speech and language development


SOURCES: OMIM MENDELIAN

More info about LANGUAGE DELAY AND ATTENTION DEFICIT-HYPERACTIVITY DISORDER/COGNITIVE IMPAIRMENT WITH OR WITHOUT CARDIAC ARRHYTHMIA; LADCI

Top 5 symptoms//phenotypes associated to Abnormality of the skeletal system and Attention deficit hyperactivity disorder

Symptoms // Phenotype % cases
Hyperactivity Common - Between 50% and 80% cases
Delayed speech and language development Common - Between 50% and 80% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Seizures Uncommon - Between 30% and 50% cases
Global developmental delay Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Abnormality of the skeletal system and Attention deficit hyperactivity disorder. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Autism

Rare Symptoms - Less than 30% cases


Depressivity Febrile seizures Behavioral abnormality Cognitive impairment Generalized hypotonia Motor delay Anxiety Intellectual disability, mild Impulsivity Cryptorchidism Developmental regression Abnormality of the cerebral white matter Poor speech Generalized myoclonic seizures Focal-onset seizure Absence seizures Focal impaired awareness seizure Hyperkeratosis Keratoconus Neurological speech impairment Sick sinus syndrome Dry skin Ichthyosis Hypohidrosis Sinus bradycardia Arrhythmia Bradycardia Opacification of the corneal stroma Jaw pain Cerebral cortical atrophy Increased serum free triiodothyronine Falls Dyslexia Intellectual disability, severe Exaggerated startle response Goiter Hyperthyroidism Thyroid hormone receptor defect Euthyroid hyperthyroxinemia Sleep disturbance Absent speech Specific learning disability Emotional lability Perseveration Abdominal symptom Deficit in phonologic short-term memory Spasticity Delayed myelination Heterotopia Abnormality of neuronal migration Receptive language delay



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