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 MENTAL RETARDATION, AUTOSOMAL DOMINANT 41; MRD41

Related symptoms:

  • Autosomal dominant inheritance
  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Microcephaly


SOURCES: MONDO UMLS DOID OMIM

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 41; MRD41

Low match DEAFNESS, DYSTONIA, AND CEREBRAL HYPOMYELINATION; DDCH

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).

DEAFNESS, DYSTONIA, AND CEREBRAL HYPOMYELINATION; DDCH Is also known as ;

Related symptoms:

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


SOURCES: OMIM ORPHANET

More info about DEAFNESS, DYSTONIA, AND CEREBRAL HYPOMYELINATION; DDCH

Low match SPINOCEREBELLAR ATAXIA 34; SCA34

Spinocerebellar ataxia-34 is an autosomal dominant disorder characterized by slowly progressive cerebellar ataxia. The age at onset is usually during the young adult years, and most patients remain ambulatory until late in life. One family with SCA34 also had onset of erythema and hyperkeratosis in early childhood (Cadieux-Dion et al., 2014), whereas other families have additional neurologic signs, including ocular movement disturbances and pyramidal tract signs (Ozaki et al., 2015).For a general discussion of autosomal dominant spinocerebellar ataxia, see SCA1 (OMIM ).

SPINOCEREBELLAR ATAXIA 34; SCA34 Is also known as erythrokeratodermia with ataxia;erythrokeratodermia with ataxia; sca34; spinocerebellar ataxia and erythrokeratodermia

Related symptoms:

  • Autosomal dominant inheritance
  • Pica
  • Ataxia
  • Nystagmus
  • Strabismus


SOURCES: MESH DOID SCTID OMIM ORPHANET GARD UMLS MONDO

More info about SPINOCEREBELLAR ATAXIA 34; SCA34

Mendelian

Too many results?
We can help you with your rare disease diagnosis.

Learn more

Other less relevant matches:

Low match HURLER-SCHEIE SYNDROME

The mucopolysaccharidoses are a group of inherited disorders caused by a lack of specific lysosomal enzymes involved in the degradation of glycosaminoglycans (GAGs), or mucopolysaccharides. The accumulation of partially degraded GAGs causes interference with cell, tissue, and organ function.Deficiency of alpha-L-iduronidase can result in a wide range of phenotypic involvement with 3 major recognized clinical entities: Hurler (MPS IH; {607014}), Scheie (MPS IS; {607016}), and Hurler-Scheie (MPS IH/S) syndromes. Hurler and Scheie syndromes represent phenotypes at the severe and mild ends of the MPS I clinical spectrum, respectively, and the Hurler-Scheie syndrome is intermediate in phenotypic expression (McKusick, 1972).Roubicek et al. (1985) presented 5 patients with alpha-L-iduronidase deficiency and a phenotype atypical for both Hurler and Scheie syndromes. They felt that the genetic compound explanation was acceptable for some cases, but that others must represent different mutations.

HURLER-SCHEIE SYNDROME Is also known as mps1h/s; mpsih/s; mucopolysaccharidosis type 1h/s; mucopolysaccharidosis type ih/s;mucopolysaccharidosis type ih/s;mps1-hs

Related symptoms:

  • Short stature
  • Sensorineural hearing impairment
  • Hepatomegaly
  • Splenomegaly
  • Cardiomyopathy


SOURCES: SCTID ORPHANET

More info about HURLER-SCHEIE SYNDROME

Low match DIHYDROPYRIMIDINASE DEFICIENCY; DPYSD

DPYS deficiency is an autosomal recessive inborn error of pyrimidine metabolism. Less than a dozen affected individuals have been reported. About half are asymptomatic, but rare patients with neurologic abnormalities have been reported. It is unclear whether or not these abnormalities are related to the enzymatic defect. Affected individuals theoretically could have severe toxicity after the administration of the antineoplastic drug 5-fluorouracil (5FU), although no cases have been reported (Hamajima et al., 1998; van Kuilenburg et al., 2007).See also dihydropyrimidine dehydrogenase deficiency (OMIM ), a similar disorder.

DIHYDROPYRIMIDINASE DEFICIENCY; DPYSD Is also known as dihydropyrimidinuria, dpys deficiency, dph deficiency;dihydropyrimidinase deficiency

Related symptoms:

  • Autosomal recessive inheritance
  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Growth delay


SOURCES: SCTID GARD ORPHANET OMIM MONDO UMLS

More info about DIHYDROPYRIMIDINASE DEFICIENCY; DPYSD

Low match SPINOCEREBELLAR ATAXIA 13; SCA13

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 13; SCA13 Is also known as ;sca13

Related symptoms:

  • Autosomal dominant inheritance
  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature


SOURCES: SCTID ORPHANET MESH OMIM UMLS DOID GARD MONDO

More info about SPINOCEREBELLAR ATAXIA 13; SCA13

Low match SPASTIC PARAPLEGIA 55, AUTOSOMAL RECESSIVE; SPG55

gene (12q24.31) encoding probable peptide chain release factor C12orf65, mitochondrial.

SPASTIC PARAPLEGIA 55, AUTOSOMAL RECESSIVE; SPG55 Is also known as ;spg55

Related symptoms:

  • Autosomal recessive inheritance
  • Intellectual disability
  • Global developmental delay
  • Nystagmus
  • Strabismus


SOURCES: UMLS DOID MONDO OMIM ORPHANET

More info about SPASTIC PARAPLEGIA 55, AUTOSOMAL RECESSIVE; SPG55

Low match COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 26; COXPD26

COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 26; COXPD26 Is also known as ;coxpd26

Related symptoms:

  • Autosomal recessive inheritance
  • Global developmental delay
  • Generalized hypotonia
  • Growth delay
  • Failure to thrive


SOURCES: ORPHANET UMLS OMIM EFO MONDO

More info about COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 26; COXPD26

Low match SPASTIC PARAPLEGIA 9B, AUTOSOMAL RECESSIVE; SPG9B

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 ).

SPASTIC PARAPLEGIA 9B, AUTOSOMAL RECESSIVE; SPG9B Is also known as ;ar-spg9b

Related symptoms:

  • Autosomal recessive inheritance
  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Microcephaly


SOURCES: MONDO DOID ORPHANET OMIM UMLS

More info about SPASTIC PARAPLEGIA 9B, AUTOSOMAL RECESSIVE; SPG9B

Low match BIRK-BAREL MENTAL RETARDATION DYSMORPHISM SYNDROME

Intellectual disability, Birk-Barel type is a rare, genetic, syndromic intellectual disability characterized by congenital central hypotonia, developmental delay, moderate to severe intellectual disability and subtle dysmorphic features which evolve over time (dolichocephaly, myopathic facies, ptosis, short and broad philtrum, tented upper lip vermillion, palatal anomalies, mild micro- and/or retrognathia). Patients present reduced facial movements, lethargy, weak cry, transient neonatal hypoglycemia, severe feeding difficulties and failure to thrive. Dysphagia, particularly of solid food, asthenic body build, joint contractures and scoliosis are additional features.

BIRK-BAREL MENTAL RETARDATION DYSMORPHISM SYNDROME Is also known as birk-barel syndrome, mental retardation with hypotonia and facial dysmorphism;intellectual disability-hypotonia-facial dysmorphism syndrome

Related symptoms:

  • Autosomal dominant inheritance
  • Intellectual disability
  • Generalized hypotonia
  • Micrognathia
  • Muscular hypotonia


SOURCES: GARD DOID MESH ORPHANET MONDO OMIM UMLS

More info about BIRK-BAREL MENTAL RETARDATION DYSMORPHISM SYNDROME

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

Symptoms // Phenotype % cases
Global developmental delay Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Babinski sign Common - Between 50% and 80% cases
Autosomal recessive inheritance Uncommon - Between 30% and 50% cases
Autosomal dominant inheritance Uncommon - Between 30% and 50% cases
Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Dysarthria Spasticity Seizures Hyperreflexia Short stature Growth delay Motor delay Cerebellar atrophy Feeding difficulties Optic atrophy Strabismus Generalized hypotonia Microcephaly Skeletal muscle atrophy Nystagmus

Rare Symptoms - Less than 30% cases


Cardiomyopathy Cirrhosis Gait disturbance Hyporeflexia Gait ataxia Ophthalmoplegia Progressive cerebellar ataxia Foot dorsiflexor weakness Limb ataxia Fasciculations Paraplegia Abnormality of the cerebral white matter Feeding difficulties in infancy Muscular hypotonia Muscle weakness Impaired vibratory sensation Difficulty walking Intellectual disability, mild Delayed speech and language development Dysphagia Talipes equinovarus Acidosis Ataxia Spastic paraplegia Morphological abnormality of the pyramidal tract Sensorineural hearing impairment Facial asymmetry Failure to thrive Corpus callosum atrophy Hearing impairment Intellectual disability, severe Paraparesis Brain atrophy Cerebral cortical atrophy Tetraplegia Spastic paraparesis Optic neuropathy Upper limb muscle weakness Poor fine motor coordination Decreased sensory nerve conduction velocity Axonal regeneration Tibialis muscle weakness Progressive distal muscle weakness Focal white matter lesions Central scotoma Myopathy Narrow mouth Dyspnea Lactic acidosis Malabsorption Triangular face Poor speech Onion bulb formation Cerebral white matter atrophy Scotoma Reduced visual acuity Impaired visuospatial constructive cognition Small hand Cognitive impairment Visual impairment Peripheral neuropathy Short metacarpal Hypoplasia of the corpus callosum Hypertonia Clonus Steppage gait Distal muscle weakness Arthrogryposis multiplex congenita Lower limb muscle weakness Distal sensory impairment Peripheral axonal neuropathy Arrhythmia Sensory impairment Brachydactyly Lower limb spasticity Paresthesia Increased serum lactate Nevus Pseudobulbar paralysis Urinary retention Hyperreflexia in upper limbs Pollakisuria Impaired vibration sensation at ankles Impaired continence Micrognathia Flexion contracture High palate Mild microcephaly Short philtrum Thick eyebrow Highly arched eyebrow Broad nasal tip Narrow forehead Sacral dimple Spinal muscular atrophy Broad eyebrow Long neck Primitive reflex Absent Achilles reflex Delayed myelination Pain Jerky ocular pursuit movements Blue sclerae Exercise intolerance Glucose intolerance Mitochondrial myopathy Exertional dyspnea Gastrointestinal dysmotility Abnormal activity of mitochondrial respiratory chain Cataract Tremor Loss of speech Progressive Kyphoscoliosis Limb muscle weakness Unsteady gait Spastic gait Postural tremor Toe walking Lower limb hyperreflexia Abnormality of the periventricular white matter Upgaze palsy Urinary urgency Impaired distal vibration sensation Coarse facial features Abnormality of the musculature Orthostatic hypotension Impaired smooth pursuit Supranuclear ophthalmoplegia Hyperactivity Hepatomegaly Splenomegaly Hernia Skeletal dysplasia Urticaria Corneal opacity Limitation of joint mobility Generalized hirsutism Abnormal vertebral morphology Abnormal heart valve morphology Spinal canal stenosis Rhinitis Abnormal nerve conduction velocity Dysdiadochokinesis Macular degeneration X-linked recessive inheritance Abnormality of movement Congenital strabismus Cerebral hypomyelination Episodic fever CNS hypomyelination Constipation Erythema Hyperkeratosis Neurological speech impairment Papule Macule Dry skin Abnormality of the skin Abnormality of eye movement Hypotension Intention tremor Aggressive behavior Hypohidrosis Elevated hepatic transaminase Abnormality of the tonsils Cerebral atrophy Limb dysmetria Optic disc pallor Myoclonus Intellectual disability, moderate Slow progression Dysmetria Postural instability Abnormal cerebellum morphology Urinary incontinence Bradykinesia Abnormality of extrapyramidal motor function Short chin Clumsiness Cerebral palsy Torticollis Hypsarrhythmia Pica Hyperactive deep tendon reflexes Difficulty running Titubation Nasal speech Infantile spasms Dystonia Dyskinesia Intrauterine growth retardation Diarrhea Anal atresia Enuresis nocturna Lethargy Short distal phalanx of finger Oval face Metabolic acidosis Hip dysplasia Epileptic spasms Short phalanx of finger Cholestasis Plagiocephaly Excessive daytime somnolence Reduced consciousness/confusion Enuresis Intractable diarrhea Extrapyramidal dyskinesia Reduced dihydropyrimidine dehydrogenase activity Submucous cleft soft palate



Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more

Other signs and symptoms that you may find interesting

Frontal bossing and Arthralgia, related diseases and genetic alterations Arthritis and Narrow forehead, related diseases and genetic alterations Abnormality of the skeletal system and Arrhythmia, related diseases and genetic alterations Optic atrophy and Leukodystrophy, related diseases and genetic alterations Muscle weakness and Triangular face, related diseases and genetic alterations