Abnormal facial shape, and Abnormal pyramidal sign

Diseases related with Abnormal facial shape and Abnormal pyramidal sign

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


Top matches:

Low match EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 65; EIEE65


Early infantile epileptic encephalopathy-65 is characterized by onset of intractable seizures of various types within 6 months of birth, severe to profound psychomotor developmental delay, and mild facial dysmorphism (summary by Nakashima et al., 2018).For a general phenotypic description and a discussion of genetic heterogeneity of EIEE, see EIEE1 (OMIM ).

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Abnormal facial shape


SOURCES: OMIM MENDELIAN

More info about EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 65; EIEE65

Low match MENTAL RETARDATION, AUTOSOMAL DOMINANT 41; MRD41


Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Microcephaly
  • High palate


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 41; MRD41

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

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Other less relevant matches:

Low match SPINOCEREBELLAR ATAXIA TYPE 34


Spinocerebellar ataxia type 34 (SCA34) is a subtype of autosomal dominant cerebellar ataxia type I (ADCA type I; see this term), characterized by papulosquamous, ichthyosiform plaques on the limbs appearing shortly after birth and later manifestations including progressive ataxia, dysarthria, nystagmus and decreased reflexes.

SPINOCEREBELLAR ATAXIA TYPE 34 Is also known as erythrokeratodermia with ataxia|sca34|spinocerebellar ataxia and erythrokeratodermia

Related symptoms:

  • Ataxia
  • Nystagmus
  • Strabismus
  • Spasticity
  • Hyperreflexia


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about SPINOCEREBELLAR ATAXIA TYPE 34

Low match DIHYDROPYRIMIDINURIA


Dihydropyrimidinase (DPD) deficiency is a very rare pyrimidine metabolism disorder with a variable clinical presentation including gastrointestinal manifestations (feeding problems, cyclic vomiting, gastroesophageal reflux, malabsorption with villous atrophy), hypotonia, intellectual deficit, seizures, and less frequently growth retardation, failure to thrive, microcephaly and autism. Asymptomatic cases are also reported. DPD deficiency increases the risk of 5-FU toxicity.

DIHYDROPYRIMIDINURIA Is also known as dihydropyrimidinase deficiency|dph deficiency|dihydropyrimidinuria|dpys deficiency

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about DIHYDROPYRIMIDINURIA

Low match AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 55


Autosomal recessive spastic paraplegia type 55 (SPG 55) is a rare, complex type of hereditary spastic paraplegia characterized by childhood onset of progressive spastic paraplegia associated with optic atrophy (with reduced visual acuity and central scotoma), ophthalmoplegia, reduced upper-extremity strength and dexterity, muscular atrophy in the lower extremities, and sensorimotor neuropathy. SPG55 is caused by mutations in the C12ORF65 gene (12q24.31) encoding probable peptide chain release factor C12orf65, mitochondrial.

AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 55 Is also known as spg55

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Nystagmus
  • Strabismus
  • Muscle weakness


SOURCES: ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 55

Low match SPASTIC PARAPLEGIA 47, AUTOSOMAL RECESSIVE; SPG47


Spastic paraplegia-47 is an autosomal recessive neurodegenerative disorder characterized by neonatal hypotonia that progresses to hypertonia and spasticity and severe mental retardation with poor or absent speech development (summary by Abou Jamra et al., 2011).

SPASTIC PARAPLEGIA 47, AUTOSOMAL RECESSIVE; SPG47 Is also known as cpsq5, formerly|cerebral palsy, spastic quadriplegic, 5, formerly

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about SPASTIC PARAPLEGIA 47, AUTOSOMAL RECESSIVE; SPG47

Low match HYDROCEPHALUS WITH STENOSIS OF THE AQUEDUCT OF SYLVIUS


Hydrocephalus with stenosis of the aqueduct of Sylvius (HSAS) is a historical term used to describe a phenotype now considered to be part of the X-linked L1 clinical spectrum (L1 syndrome, see this term). HSAS is characterized by severe hydrocephalus mostly with prenatal onset, signs of intracranial hypertension, adducted thumbs, spasticity, and severe intellectual deficit. HSAS represents the severe end of the spectrum and is associated with poor prognosis.

HYDROCEPHALUS WITH STENOSIS OF THE AQUEDUCT OF SYLVIUS Is also known as x-linked hydrocephalus|hsas1|hycx|aqueductal stenosis, x-linked|bickers-adams syndrome|x-linked acqueductal stenosis|xlas|hydrocephalus, x-linked|x-linked hydrocephalus with stenosis of aqueduct of sylvius|x-linked hsas|hsas

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about HYDROCEPHALUS WITH STENOSIS OF THE AQUEDUCT OF SYLVIUS

Low match AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 9B


Autosomal recessive SPG9B is a neurologic disorder characterized by early-onset complex spastic paraplegia. Affected individuals had delayed psychomotor development, intellectual disability, and severe motor impairment. More variable features include dysmorphic facial features, tremor, and urinary incontinence (summary by Coutelier et al., 2015).For a discussion of genetic heterogeneity of autosomal recessive SPG, see SPG5A (OMIM ).

AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 9B Is also known as ar-spg9b

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Microcephaly
  • Growth delay


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 9B

Low match COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 26


COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 26 Is also known as coxpd26

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Growth delay
  • Failure to thrive
  • Muscle weakness


SOURCES: OMIM ORPHANET MENDELIAN

More info about COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 26

Top 5 symptoms//phenotypes associated to Abnormal facial shape and Abnormal pyramidal sign

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

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

Common Symptoms - More than 50% cases


Hyperreflexia

Uncommon Symptoms - Between 30% and 50% cases


Microcephaly Strabismus Paraplegia Generalized hypotonia Spastic paraplegia Dysarthria Nystagmus Intellectual disability, severe Growth delay Talipes equinovarus Spastic paraparesis Muscle weakness Paraparesis Delayed speech and language development Brain atrophy Tetraplegia Absent speech Ventriculomegaly Cerebellar atrophy

Rare Symptoms - Less than 30% cases


Corpus callosum atrophy Gait disturbance Hyporeflexia Ophthalmoplegia Abnormality of the periventricular white matter Peripheral axonal neuropathy Fasciculations Feeding difficulties Skeletal muscle atrophy Coarse facial features Flexion contracture Acidosis Abnormality of the cerebral white matter Cirrhosis Muscular hypotonia Short stature Foot dorsiflexor weakness Hypertonia Hypoplasia of the corpus callosum Cognitive impairment Hypsarrhythmia Cerebral cortical atrophy Cerebral atrophy Infantile spasms Failure to thrive High palate Dystonia Optic atrophy Facial asymmetry Aggressive behavior Dilatation Everted upper lip vermilion Neoplasm Macrocephaly Hydrocephalus Holoprosencephaly Agenesis of corpus callosum Carcinoma Joint stiffness Increased intracranial pressure Adducted thumb Hemiplegia/hemiparesis Absent septum pellucidum Renal cell carcinoma Aqueductal stenosis Acetabular dysplasia Protruding tongue Excessive salivation Short philtrum Epileptic encephalopathy Highly arched eyebrow Wide nasal bridge Encephalopathy Pes planus Neonatal hypotonia Wide mouth Bulbous nose Facial hypotonia Inability to walk Waddling gait Febrile seizures Narrow forehead Spastic tetraplegia Open mouth Flexion contracture of thumb Genu recurvatum Clear cell renal cell carcinoma Motor delay Corticospinal tract hypoplasia Triangular face Cardiomyopathy Myopathy Narrow mouth Dyspnea Malabsorption Poor speech Paresthesia Lactic acidosis Delayed myelination Impaired vibration sensation at ankles Increased serum lactate Blue sclerae Exercise intolerance Ragged-red muscle fibers Glucose intolerance Exertional dyspnea Mitochondrial myopathy Gastrointestinal dysmotility Impaired continence Hyperreflexia in upper limbs Noncommunicating hydrocephalus Postural tremor Cataract Focal white matter lesions Tremor Kyphoscoliosis Limb muscle weakness Unsteady gait Urinary incontinence Spastic gait Impaired vibratory sensation Pollakisuria Toe walking Lower limb hyperreflexia Loss of speech Mild microcephaly Absent Achilles reflex Urinary retention Primitive reflex Pseudobulbar paralysis Tibialis muscle weakness Poor fine motor coordination Axonal regeneration Orthostatic hypotension Hypohidrosis Limb ataxia Hearing impairment Macular degeneration Urticaria Dysdiadochokinesis Macule Abnormality of the musculature Hypotension Impaired smooth pursuit Supranuclear gaze palsy Supranuclear ophthalmoplegia Enuresis nocturna Oval face Enuresis Epileptic spasms Diarrhea Intention tremor Abnormality of the skin Lethargy Intrauterine growth retardation Elevated hepatic transaminase CNS hypomyelination Episodic fever Hyperactivity Cerebral hypomyelination Cerebral white matter atrophy Ataxia Constipation Progressive cerebellar ataxia Hyperkeratosis Gait ataxia Erythema Neurological speech impairment Papule Sensorineural hearing impairment Abnormality of movement Dry skin Feeding difficulties in infancy Cone-shaped epiphysis Decreased sensory nerve conduction velocity Clonus Distal muscle weakness Arthrogryposis multiplex congenita Tented upper lip vermilion Lower limb muscle weakness Distal sensory impairment Sensory impairment Lower limb spasticity Progressive microcephaly Reduced visual acuity Steppage gait Scotoma Onion bulb formation Optic neuropathy Central scotoma Upper limb muscle weakness Abnormality of eye movement Progressive distal muscle weakness Difficulty walking Intellectual disability, mild Anal atresia Excessive daytime somnolence Nasal speech Short distal phalanx of finger Dyskinesia Metabolic acidosis Hip dysplasia Cholestasis Short phalanx of finger Plagiocephaly Reduced consciousness/confusion Brachydactyly Morphological abnormality of the pyramidal tract Intractable diarrhea Extrapyramidal dyskinesia Reduced dihydropyrimidine dehydrogenase activity Short chin Short metacarpal Peripheral neuropathy Small hand Abnormal activity of mitochondrial respiratory chain



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