Abnormal facial shape, and Dystonia

Diseases related with Abnormal facial shape and Dystonia

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


Top matches:

Medium match MENTAL RETARDATION, AUTOSOMAL RECESSIVE 6; MRT6


Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Abnormal facial shape
  • Cognitive impairment


SOURCES: OMIM MESH MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL RECESSIVE 6; MRT6

Low match MENTAL RETARDATION, X-LINKED 49; MRX49


Nonsyndromic mental retardation. Hypotonia in infancy, poor or absent speech, and other disorders are occasionally associated.

MENTAL RETARDATION, X-LINKED 49; MRX49 Is also known as mental retardation, x-linked 15|mrx15

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, X-LINKED 49; MRX49

Low match PRIMARY DYSTONIA, DYT4 TYPE


DYT4 type primary dystonia is characterized by predominantly laryngeal dystonia (manifesting as whispering dysphonia) and cervical dystonia (manifesting as torticollis).

PRIMARY DYSTONIA, DYT4 TYPE Is also known as dystonia musculorum deformans 4|whispering dysphonia, hereditary|dyt4|hereditary whispering dysphonia

Related symptoms:

  • Gait disturbance
  • Dysphagia
  • Respiratory distress
  • Dystonia
  • Dementia


SOURCES: ORPHANET OMIM MENDELIAN

More info about PRIMARY DYSTONIA, DYT4 TYPE

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Other less relevant matches:

Low match CYSTIC LEUKOENCEPHALOPATHY WITHOUT MEGALENCEPHALY


Cystic leukoencephalopathy without megalencephaly is characterised by non-progressive leukoencephalopathy, bilateral cysts in the anterior part of the temporal lobe, cerebral white matter anomalies and severe psychomotor impairment. Less than 50 patients have been described in the literature so far. Inheritance is most likely autosomal recessive.

CYSTIC LEUKOENCEPHALOPATHY WITHOUT MEGALENCEPHALY Is also known as clwm

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about CYSTIC LEUKOENCEPHALOPATHY WITHOUT MEGALENCEPHALY

Low match FREE SIALIC ACID STORAGE DISEASE, INFANTILE FORM


Sialic acid storage diseases are autosomal recessive neurodegenerative disorders that may present as a severe infantile form (ISSD) or as a slowly progressive adult form that is prevalent in Finland (Salla disease). The main symptoms are hypotonia, cerebellar ataxia, and mental retardation; visceromegaly and coarse features are also present in the infantile cases. Progressive cerebellar atrophy and dysmyelination have been documented by MRI. Enlarged lysosomes are seen on electron microscopic studies, and patients excrete large amounts of free sialic acid in the urine (Verheijen et al., 1999).

FREE SIALIC ACID STORAGE DISEASE, INFANTILE FORM Is also known as issd|sialuria, finnish type

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about FREE SIALIC ACID STORAGE DISEASE, INFANTILE FORM

Low match X-LINKED RETICULATE PIGMENTARY DISORDER


X-linked reticulate pigmentary disorder is an extremely rare skin disease described in only four families to date and characterized in males by diffuse reticulate brown hyperpigmentated skin lesions developing in early childhood and a variety of systemic manifestations (recurrent pneumonia, corneal opacification, gastrointestinal inflammation, urethral stricture, failure to thrive, hypohidrosis, digital clubbing, and unruly hair and flared eyebrows), while in females, there is only cutaneous involvement with the development in early childhood of localized brown hyperpigmented skin lesions following the lines of Blaschko. This disease was first considered as a cutaneous amyloidosis, but amyloid deposits are an inconstant feature.

X-LINKED RETICULATE PIGMENTARY DISORDER Is also known as familial cutaneous amyloidosis|mental retardation, x-linked, with dystonic movements, ataxia, and seizures|pdr|mental retardation, x-linked, syndromic 1|x-linked cutaneous amyloidosis|xlpdr|mrx36|partington syndrome|partington disease|mrxs1|mental retarda

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hypertelorism
  • Abnormal facial shape


SOURCES: ORPHANET OMIM MENDELIAN

More info about X-LINKED RETICULATE PIGMENTARY DISORDER

Low match SEVERE MOTOR AND INTELLECTUAL DISABILITIES-SENSORINEURAL DEAFNESS-DYSTONIA SYNDROME


Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome is a rare genetic neurological disorder characterized by intrauterine growth retardation, failure to thrive, infantile onset of sensorineural deafness, severe global developmental delay or absent psychomotor development, paraplegia or quadriplegia with dystonia and pyramidal signs, microcephaly, ocular abnormalities (strabismus, optic atrophy), mildly dysmorphic features (deep-set eyes, prominent nasal bridge, micrognathia), seizures and abnormalities of brain morphology (hypomyelinating white matter changes, cerebral atrophy).

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about SEVERE MOTOR AND INTELLECTUAL DISABILITIES-SENSORINEURAL DEAFNESS-DYSTONIA SYNDROME

Low match MENTAL RETARDATION, AUTOSOMAL DOMINANT 43; MRD43


Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 43; MRD43

Low match SPINOCEREBELLAR ATAXIA TYPE 13


Spinocerebellar ataxia type 13 (SCA13) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by onset in childhood marked by delayed motor and cognitive development followed by mild progression of cerebellar ataxia.

SPINOCEREBELLAR ATAXIA TYPE 13 Is also known as sca13

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment


SOURCES: ORPHANET MENDELIAN

More info about SPINOCEREBELLAR ATAXIA TYPE 13

Top 5 symptoms//phenotypes associated to Abnormal facial shape and Dystonia

Symptoms // Phenotype % cases
Global developmental delay Very Common - Between 80% and 100% cases
Seizures Very Common - Between 80% and 100% cases
Intellectual disability Common - Between 50% and 80% cases
Spasticity Common - Between 50% and 80% cases
Generalized hypotonia Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Delayed speech and language development Cerebellar atrophy Microcephaly Dysarthria Nystagmus Poor speech Cerebral atrophy Hearing impairment Dysphagia Ataxia Motor delay Absent speech Cognitive impairment

Rare Symptoms - Less than 30% cases


Encephalopathy Myoclonus Sensorineural hearing impairment Strabismus Severe global developmental delay Cerebral cortical atrophy Intellectual disability, severe Clumsiness Rigidity Limb dystonia Tremor Hyperactivity Optic atrophy Corpus callosum atrophy Hypertelorism Feeding difficulties Behavioral abnormality Athetosis Intellectual disability, mild Coarse facial features Torticollis Gait ataxia Short stature Elevated hepatic transaminase Limb ataxia Cerebral hypomyelination Episodic fever CNS hypomyelination Brain atrophy Urinary urgency Tetraplegia Abnormality of eye movement Abnormal pyramidal sign Aggressive behavior Titubation Hyperactive deep tendon reflexes Difficulty running Intrauterine growth retardation Failure to thrive Grasp reflex Stuttering Hydranencephaly Cogwheel rigidity Impaired distal vibration sensation Jerky ocular pursuit movements Focal dystonia Infantile spasms Lissencephaly Cerebral white matter atrophy Optic disc pallor Impulsivity Thin upper lip vermilion Short chin Hip dysplasia Tapered finger Wide nose Prominent nasal bridge Attention deficit hyperactivity disorder Autistic behavior Anxiety Hyperreflexia Short palpebral fissure Difficulty walking Postural instability Urinary incontinence Muscle weakness Umbilical hernia Gastroesophageal reflux High forehead Bradykinesia Narrow mouth Autism Constipation Hernia Hypoplasia of the corpus callosum Anteverted nares Wide nasal bridge Upgaze palsy Lower limb spasticity Visceromegaly Triangular face Dysdiadochokinesis Abnormality of the cerebral white matter Ventriculomegaly Movement abnormality of the tongue Sunken cheeks Lingual dystonia Upper limb postural tremor Eunuchoid habitus Torsion dystonia Laryngeal dystonia Blepharospasm Generalized dystonia Toe walking Dysphonia Leukoencephalopathy Narrow face Involuntary movements Open mouth Kyphoscoliosis Dementia Respiratory distress Gait disturbance Generalized tonic-clonic seizures with focal onset Focal impaired awareness seizure Epileptic encephalopathy Focal-onset seizure Scoliosis Cerebral calcification Abnormal myelination Wide mouth Vacuolated lymphocytes Intellectual disability, moderate EEG abnormality Flexion contracture Loss of speech Choreoathetosis Esotropia Generalized myoclonic seizures Dysmetria Developmental regression Facial palsy Aspartylglucosaminuria Oligosacchariduria Thickened calvaria Abnormal CNS myelination Spastic tetraparesis Exotropia Tetraparesis Progressive cerebellar ataxia Inability to walk Generalized tonic-clonic seizures Abnormality of metabolism/homeostasis Abnormality of the skeletal system Muscular hypotonia Growth delay Nonprogressive encephalopathy Doll-like facies Focal white matter lesions Impaired visuospatial constructive cognition



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Abnormality of the skeletal system and Hyperhidrosis, related diseases and genetic alterations Lymphoma and Paraplegia, related diseases and genetic alterations Hydrocephalus and Hypoplasia of the corpus callosum, related diseases and genetic alterations Low-set ears and Umbilical hernia, related diseases and genetic alterations Spasticity and Progressive cerebellar ataxia, related diseases and genetic alterations

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