Spasticity, and Brachycephaly

Diseases related with Spasticity and Brachycephaly

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


Top matches:

Low match MENTAL RETARDATION, AUTOSOMAL DOMINANT 13; MRD13


MRD13 is an autosomal dominant form of mental retardation associated with variable neuronal migration defects resulting in cortical malformations. More variable features include early-onset seizures and mild dysmorphic features. Some patients may also show signs of peripheral neuropathy, such as abnormal gait, hyporeflexia, and foot deformities (summary by Willemsen et al., 2012 and Poirier et al., 2013).

MENTAL RETARDATION, AUTOSOMAL DOMINANT 13; MRD13 Is also known as mental retardation, autosomal dominant 13, with neuronal migration defects

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 13; MRD13

Low match HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY DUE TO TECPR2 MUTATION


Hereditary sensory and autonomic neuropathy due to TECPR2 mutation is a rare genetic peripheral neuropathy characterized by early hypotonia evolving to spastic paraparesis, areflexia, decreased pain and temperature sensitivity, autonomic neuropathy, gastroesophageal reflux disease, recurrent pneumonia and respiratory problems. Patients also have intellectual disability and dysmorphic features, including mild brachycephalic microcephaly, short broad neck, low anterior hairline and coarse face.

HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY DUE TO TECPR2 MUTATION Is also known as spg49|autosomal recessive spastic paraplegia type 49|hsan due to tecpr2 mutation

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY DUE TO TECPR2 MUTATION

Low match WARBURG MICRO SYNDROME 2; WARBM2


WARBURG MICRO SYNDROME 2; WARBM2 Is also known as micro syndrome 2

Related symptoms:

  • Global developmental delay
  • Microcephaly
  • Cataract
  • Cryptorchidism
  • Flexion contracture


SOURCES: OMIM MENDELIAN

More info about WARBURG MICRO SYNDROME 2; WARBM2

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Other less relevant matches:

Low match MICROPHTHALMIA, SYNDROMIC 12; MCOPS12


MICROPHTHALMIA, SYNDROMIC 12; MCOPS12 Is also known as microphthalmia with or without pulmonary hypoplasia, diaphragmatic hernia, and/or cardiac defects

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Micrognathia
  • Abnormal facial shape


SOURCES: OMIM MENDELIAN

More info about MICROPHTHALMIA, SYNDROMIC 12; MCOPS12

Low match ADENYLOSUCCINATE LYASE DEFICIENCY


Adenylosuccinate lyase deficiency (ADSL deficiency) is a disorder of purine metabolism characterized by intellectual disability, psychomotor delay and/or regression, seizures, and autistic features.

ADENYLOSUCCINATE LYASE DEFICIENCY Is also known as adenylosuccinate lyase deficiency|adenylosuccinase deficiency|adsl deficiency

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about ADENYLOSUCCINATE LYASE DEFICIENCY

Low match PONTOCEREBELLAR HYPOPLASIA TYPE 3


Pontocerebellar hypoplasia type 3 (PCH3), also known as cerebellar atrophy with progressive microcephaly (CLAM) is a rare form of pontocerebellar hypoplasia (see this term) with autosomal recessive transmission characterized neonatally by hypotonia and impaired swallowing and from infancy onward by seizures, optic atrophy and short stature, but none of the clinical findings are specific for PCH3.

PONTOCEREBELLAR HYPOPLASIA TYPE 3 Is also known as pch without dyskinesia|cerebellar atrophy with progressive microcephaly|clam|pch with optic atrophy|pch3

Related symptoms:

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


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about PONTOCEREBELLAR HYPOPLASIA TYPE 3

Low 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

Low match HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 2; IHPRF2


Infantile hypotonia with psychomotor retardation and characteristic facies-2 is a severe autosomal recessive neurodevelopmental disorder with onset at birth or in early infancy. Affected individuals show severe global developmental delay with poor or absent speech and absent or limited ability to walk. Some patients may have seizures that can be controlled; brain structure is typically normal (summary by Shamseldin et al., 2016).For a general phenotypic description and a discussion of genetic heterogeneity of infantile hypotonia with psychomotor retardation and characteristic facies, see IHPRF1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 2; IHPRF2

Low match GAUCHER DISEASE-OPHTHALMOPLEGIA-CARDIOVASCULAR CALCIFICATION SYNDROME


Gaucher disease - ophthalmoplegia - cardiovascular calcification is a variant of Gaucher disease, also known as a Gaucher-like disease that is characterized by cardiac involvement.

GAUCHER DISEASE-OPHTHALMOPLEGIA-CARDIOVASCULAR CALCIFICATION SYNDROME Is also known as cardiovascular gaucher disease|gaucher-like disease|gaucher disease type 3c

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Strabismus


SOURCES: OMIM ORPHANET MENDELIAN

More info about GAUCHER DISEASE-OPHTHALMOPLEGIA-CARDIOVASCULAR CALCIFICATION SYNDROME

Low match HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 1; IHPRF1


Infantile hypotonia with psychomotor retardation and characteristic facies (IHPRF) is a severe autosomal recessive neurologic disorder with onset at birth or in early infancy. Affected individuals show very poor, if any, normal cognitive development. Some patients are never learn to sit or walk independently (summary by Al-Sayed et al., 2013). Genetic Heterogeneity of Infantile Hypotonia with Psychomotor Retardation and Characteristic FaciesSee also IHPRF2 (OMIM ), caused by mutation in the UNC80 gene (OMIM ) on chromosome 2q34; and IHPRF3 (OMIM ), caused by mutation in the TBCK gene (OMIM ) on chromosome 4q24.

HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 1; IHPRF1 Is also known as ihprf

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Scoliosis


SOURCES: OMIM MENDELIAN

More info about HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 1; IHPRF1

Top 5 symptoms//phenotypes associated to Spasticity and Brachycephaly

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

Patients with Spasticity and Brachycephaly. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Hypoplasia of the corpus callosum Low-set ears Feeding difficulties Severe global developmental delay Muscular hypotonia of the trunk Strabismus Abnormal facial shape Short stature Flexion contracture Cerebellar atrophy Scoliosis Absent speech Cerebral atrophy Wide mouth Hyperreflexia Failure to thrive Poor speech Macrotia Downslanted palpebral fissures Smooth philtrum Nystagmus Short nose Optic atrophy Delayed speech and language development Cryptorchidism Hyperactivity Encephalopathy Thin upper lip vermilion Prominent forehead Hypertonia Inability to walk

Rare Symptoms - Less than 30% cases


Skeletal muscle atrophy Spastic tetraparesis Anteverted nares Microphthalmia Short palpebral fissure Tetraparesis Poor eye contact Long philtrum Postnatal growth retardation Prominent nasal bridge Developmental regression Hydrocephalus Autism Postnatal microcephaly Infantile muscular hypotonia Global brain atrophy Short philtrum Hypsarrhythmia Micrognathia Cachexia Hypertelorism Dystonia Depressed nasal bridge Talipes equinovarus Full cheeks Triangular face Generalized-onset seizure Dyskinesia Low anterior hairline Plagiocephaly Constipation Decreased body weight Spastic tetraplegia Small hand Edema Downturned corners of mouth Polymicrogyria Cerebellar hypoplasia Hyporeflexia Intellectual disability, severe Ptosis Neonatal hypotonia Hypoplasia of the brainstem Gastroesophageal reflux Short neck Hearing impairment Epicanthus Gait ataxia Broad forehead Highly arched eyebrow Tapered finger Hip contracture Cerebral palsy Microretrognathia Open mouth Thick vermilion border Thick eyebrow Sleep disturbance Intellectual disability, profound Esotropia Prominent nose Bulbous nose Prominent nasal tip Failure to thrive in infancy Wide nasal base Arthrogryposis multiplex congenita Decreased palmar creases Intrauterine growth retardation Joint laxity Osteopenia Frontal bossing High forehead Tented upper lip vermilion Posteriorly rotated ears Severe muscular hypotonia Choreoathetosis Brain atrophy Pancytopenia Facial hypotonia Calcification of the aorta Abnormal aortic valve morphology Abnormality of the pulmonary artery Abnormal aortic morphology Reticular hyperpigmentation Aortic valve calcification Abnormal saccadic eye movements Corneal crystals Mitral valve calcification Supranuclear ophthalmoplegia Spontaneous, recurrent epistaxis Abnormal aortic arch morphology Elevated serum acid phosphatase Bacterial endocarditis Foam cells Decreased beta-glucocerebrosidase protein and activity Abnormality of toe Cardiac valve calcification Slowed horizontal saccades Hypometric horizontal saccades Abnormal common carotid artery morphology Aortic arch calcification Cardiovascular calcification Abnormal pyramidal sign Pectus carinatum Abnormality of the cerebral white matter Neurodegeneration Decreased motor nerve conduction velocity Abnormal mitral valve morphology Supranuclear gaze palsy Profound global developmental delay Ophthalmoplegia Generalized tonic seizures Appendicular hypotonia Profound static encephalopathy Hepatomegaly Respiratory distress Congestive heart failure Splenomegaly Pes cavus Hepatosplenomegaly Pallor Corneal opacity Generalized tonic-clonic seizures Dry skin Communicating hydrocephalus Cardiomegaly Ventricular hypertrophy Mitral regurgitation Aortic valve stenosis Horizontal nystagmus Opacification of the corneal stroma Oculomotor apraxia Aortic regurgitation Heart murmur Exertional dyspnea Abnormal heart valve morphology Abnormal EKG Mitral stenosis Small for gestational age Opisthotonus Autistic behavior Central apnea Paraplegia Dysmetria Round face Dental crowding Spastic gait Aspiration Mild short stature Broad neck Hypomimic face Cataract Respiratory tract infection Micropenis Congenital cataract Microcornea Scrotal hypoplasia Overlapping toe Spastic diplegia Hypoplastic labia majora Asymmetry of the ears Undetectable visual evoked potentials Cleft palate Spastic paraplegia Apnea Ventricular septal defect Everted lower lip vermilion Muscular hypotonia Peripheral neuropathy Gait disturbance Dysphagia Ventriculomegaly Kyphoscoliosis Deeply set eye Abnormality of the foot Peripheral axonal neuropathy Tetraplegia Recurrent respiratory infections Focal-onset seizure Waddling gait Pachygyria Heterotopia Short toe Toe walking Cortical dysplasia Broad palm Dysarthria Areflexia Wide nasal bridge Hernia Narrow mouth Progressive microcephaly Happy demeanor Inappropriate laughter Hypointensity of cerebral white matter on MRI Ataxia High palate Visual impairment Proptosis High, narrow palate Underdeveloped nasal alae Elbow flexion contracture Short attention span Poor head control Long palpebral fissure Thoracic scoliosis Progressive encephalopathy Hypoplasia of the pons Pontocerebellar atrophy Macrocephaly Abnormality of the skeletal system Atrial septal defect Kyphosis Cerebral hypomyelination Self-mutilation Retrognathia Hypoplastic left atrium Sparse hair Pulmonary hypoplasia Wide nose Broad nasal tip Chorea Congenital diaphragmatic hernia Short chin Anophthalmia Bicornuate uterus Growth delay Epileptic spasms Myoclonus Aggressive behavior Apraxia Stereotypy CNS hypomyelination Impulsivity Flat occiput Brisk reflexes Cerebellar vermis atrophy Prominent metopic ridge Slender nose



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