Abnormal facial shape, and Difficulty walking

Diseases related with Abnormal facial shape and Difficulty walking

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


Top matches:

Medium 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

Medium 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

Medium match NEURODEVELOPMENTAL DISORDER WITH ATAXIC GAIT, ABSENT SPEECH, AND DECREASED CORTICAL WHITE MATTER; NDAGSCW


NDAGSCW is a neurodevelopmental disorder characterized by severely delayed psychomotor development apparent from infancy. Affected individuals have delayed and difficulty walking, intellectual disability, absent speech, and variable additional features, including hip dysplasia, tapering fingers, and seizures. Brain imaging shows decreased cortical white matter, often with decreased cerebellar white matter, thin corpus callosum, and thin brainstem (summary by Lamers et al., 2017).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about NEURODEVELOPMENTAL DISORDER WITH ATAXIC GAIT, ABSENT SPEECH, AND DECREASED CORTICAL WHITE MATTER; NDAGSCW

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Other less relevant matches:

Medium match COMBINED IMMUNODEFICIENCY DUE TO ORAI1 DEFICIENCY


Combined immunodeficiency (CID) due to ORAI1 deficiency is a form of CID due to Calcium release activated Ca2+ (CRAC) channel dysfunction (see this term) characterized by recurrent infections, congenital myopathy, ectodermal dysplasia and anhydrosis.

COMBINED IMMUNODEFICIENCY DUE TO ORAI1 DEFICIENCY Is also known as cid due to orai1 deficiency|immune dysfunction with t-cell inactivation due to calcium entry defect 1

Related symptoms:

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


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about COMBINED IMMUNODEFICIENCY DUE TO ORAI1 DEFICIENCY

Medium match MACROCEPHALY, DYSMORPHIC FACIES, AND PSYCHOMOTOR RETARDATION; MDFPMR


Macrocephaly, dysmorphic facies, and psychomotor retardation (MDFPMR) is an autosomal recessive neurodevelopmental disorder characterized by large head and somatic overgrowth apparent at birth followed by global developmental delay. Affected individuals have characteristic dysmorphic facial features and persistently large head, but increased birth weight normalizes with age. Additional neurologic features, including seizures, hypotonia, and gait ataxia, may also occur. Patients show severe intellectual impairment (summary by Ortega-Recalde et al., 2015).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MACROCEPHALY, DYSMORPHIC FACIES, AND PSYCHOMOTOR RETARDATION; MDFPMR

Medium match URUGUAY FACIOCARDIOMUSCULOSKELETAL SYNDROME; FCMSU


URUGUAY FACIOCARDIOMUSCULOSKELETAL SYNDROME; FCMSU Is also known as faciocardiomusculoskeletal syndrome, uruguay type|fcms

Related symptoms:

  • Scoliosis
  • Low-set ears
  • Downslanted palpebral fissures
  • Cardiomyopathy
  • Congestive heart failure


SOURCES: OMIM MESH MENDELIAN

More info about URUGUAY FACIOCARDIOMUSCULOSKELETAL SYNDROME; FCMSU

Medium match SPINAL AND BULBAR MUSCULAR ATROPHY, X-LINKED 1; SMAX1


Kennedy disease is an X-linked recessive form of spinal muscular atrophy. It occurs only in men. Age at onset is usually in the third to fifth decade of life, but earlier involvement has been reported. The disorder is characterized by slowly progressive limb and bulbar muscle weakness with fasciculations, muscle atrophy, and gynecomastia (Harding et al., 1982). The disorder is clinically similar to, but genetically distinct from, classic forms of autosomal spinal muscular atrophy (see, e.g., SMA1; {253300}).

SPINAL AND BULBAR MUSCULAR ATROPHY, X-LINKED 1; SMAX1 Is also known as kd|bulbospinal neuronopathy, x-linked recessive|xbsn|spinal and bulbar muscular atrophy|kennedy disease|bulbospinal muscular atrophy, x-linked|sbma|kennedy spinal and bulbar muscular atrophy

Related symptoms:

  • Ataxia
  • Muscle weakness
  • Muscular hypotonia
  • Pain
  • Peripheral neuropathy


SOURCES: ORPHANET OMIM MENDELIAN

More info about SPINAL AND BULBAR MUSCULAR ATROPHY, X-LINKED 1; SMAX1

Medium match CHILDHOOD-ONSET NEMALINE MYOPATHY


Childhood onset nemaline myopathy, or mild nemaline myopathy is a type of nemaline myopathy (NM; see this terms) characterized by distal muscle weakness, and sometimes slowness of muscle contraction.

CHILDHOOD-ONSET NEMALINE MYOPATHY Is also known as mild nemaline myopathy

Related symptoms:

  • Generalized hypotonia
  • Scoliosis
  • Hypertelorism
  • Micrognathia
  • Ptosis


SOURCES: ORPHANET MENDELIAN

More info about CHILDHOOD-ONSET NEMALINE MYOPATHY

Medium match AUTOSOMAL RECESSIVE CENTRONUCLEAR MYOPATHY


Autosomal recessive centronuclear myopathy (AR-CNM) is an inherited neuromuscular disorder defined by numerous centrally placed nuclei on muscle biopsy and clinical features of a congenital myopathy.

AUTOSOMAL RECESSIVE CENTRONUCLEAR MYOPATHY Is also known as myopathy, centronuclear, autosomal recessive|myotubular myopathy, autosomal recessive|ar-cnm

Related symptoms:

  • Intellectual disability
  • Generalized hypotonia
  • Scoliosis
  • Muscle weakness
  • Abnormal facial shape


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about AUTOSOMAL RECESSIVE CENTRONUCLEAR MYOPATHY

Medium match X-LINKED INTELLECTUAL DISABILITY-DANDY-WALKER MALFORMATION-BASAL GANGLIA DISEASE-SEIZURES SYNDROME


X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizures (XDIBS), or Pettigrew syndrome is a central nervous system malformation characterized by severe intellectual deficit, early hypotonia with progression to spasticity and contractures, choreoathetosis, seizures, dysmorphic face (long face with prominent forehead), and brain imaging abnormalities such as Dandy-Walker malformation (see this term), and iron deposition.

X-LINKED INTELLECTUAL DISABILITY-DANDY-WALKER MALFORMATION-BASAL GANGLIA DISEASE-SEIZURES SYNDROME Is also known as mental retardation, x-linked, with dandy-walker malformation, basal ganglia disease, and seizures|mrxs21|mrx59|mental retardation, x-linked 59|mrxs5|mental retardation, x-linked, syndromic, fried type|mrxsf|mental retardation, x-linked, syndromic 21|menta

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about X-LINKED INTELLECTUAL DISABILITY-DANDY-WALKER MALFORMATION-BASAL GANGLIA DISEASE-SEIZURES SYNDROME

Top 5 symptoms//phenotypes associated to Abnormal facial shape and Difficulty walking

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

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

Uncommon Symptoms - Between 30% and 50% cases


Talipes equinovarus Pes cavus Gait ataxia Myopathy Long face Motor delay Muscle weakness Spasticity Flexion contracture Ventriculomegaly Areflexia Strabismus Cognitive impairment Cardiomyopathy Skeletal muscle atrophy High palate Hyperreflexia Muscular hypotonia Kyphosis Respiratory insufficiency due to muscle weakness Intellectual disability, mild Nystagmus Optic atrophy Dysarthria

Rare Symptoms - Less than 30% cases


Feeding difficulties Macrocephaly Ptosis Poor fine motor coordination Protruding ear Hyperlordosis Progressive muscle weakness Abnormal cerebellum morphology Mandibular prognathia Downslanted palpebral fissures High forehead Dysphonia Absent speech Type 1 muscle fiber predominance Upslanted palpebral fissure Deeply set eye Cerebral cortical atrophy Facial diplegia Prominent forehead Posteriorly rotated ears Cerebellar hypoplasia Waddling gait EMG: myopathic abnormalities Scapular winging Neurodegeneration Hyporeflexia Hydrocephalus Hypoplasia of the corpus callosum Gowers sign Bulbar signs Dysphagia Cerebellar atrophy Bradykinesia Prominent nose Clumsiness Difficulty running Retrognathia Fasciculations Congestive heart failure Peripheral neuropathy Elevated serum creatine phosphokinase Pneumonia Hypertelorism Distal muscle weakness Narrow face Arthrogryposis multiplex congenita Delayed speech and language development Limb muscle weakness Long fingers Low-set ears Ataxia Ophthalmoplegia Slender build Proximal muscle weakness Abnormality of lipid metabolism Calf muscle hypertrophy Axonal loss Muscle fibrillation Bulbar palsy Decreased fertility Impotence Amyotrophic lateral sclerosis Muscle cramps Spinal muscular atrophy Tremor Eclabion Limited elbow movement Brachyturricephaly Hyperplasia of the maxilla Camptodactyly of toe Progressive pes cavus Broad nail Marked muscular hypertrophy Pugilistic facies Dislocation of toes Pain Gait disturbance Limb-girdle muscular dystrophy Myalgia Muscular dystrophy Infertility Facial asymmetry Sensory neuropathy Abnormality of the mouth Type II diabetes mellitus Intention tremor Gynecomastia Aspiration Hyperlipidemia Overweight Polyhydramnios Hand tremor Generalized amyotrophy Axial muscle weakness Hip contracture Centrally nucleated skeletal muscle fibers Abnormal heart valve morphology Exertional dyspnea Difficulty climbing stairs Ophthalmoparesis Sensorineural hearing impairment Congenital contracture Bilateral ptosis External ophthalmoplegia Left ventricular hypertrophy Bifid uvula Generalized muscle weakness EMG: decremental response of compound muscle action potential to repetitive nerve stimulation Cryptorchidism Facial palsy Cerebral calcification High-frequency hearing impairment Basal ganglia calcification Aplasia/Hypoplasia of the cerebellum Self-injurious behavior Pointed chin Choreoathetosis Dandy-Walker malformation Intellectual disability, severe Thick vermilion border Wide mouth Aggressive behavior Coarse facial features Dementia Inguinal hernia Feeding difficulties in infancy Neonatal hypotonia Aspiration pneumonia Limb tremor Micrognathia Proximal spinal muscular atrophy Laryngospasm Erectile abnormalities Exercise-induced muscle cramps Motor neuron atrophy Tongue atrophy Narrow chest Decreased LDL cholesterol concentration Hyperlipoproteinemia Testicular atrophy Kinetic tremor Oligospermia Distal lower limb amyotrophy Hallux valgus Muscle stiffness Dyspnea Reduced vital capacity Narrow mouth Respiratory insufficiency Neuromuscular dysphagia Fatigable weakness of bulbar muscles Increased muscle lipid content Generalized limb muscle atrophy Breech presentation Exercise intolerance Nemaline bodies Fetal akinesia sequence Neck muscle weakness Spinal rigidity Mildly elevated creatine phosphokinase Increased variability in muscle fiber diameter Broad palm Overgrowth Skeletal muscle hypertrophy Clinodactyly Onion bulb formation Optic neuropathy Central scotoma Upper limb muscle weakness Progressive distal muscle weakness Decreased sensory nerve conduction velocity Axonal regeneration Focal white matter lesions Tibialis muscle weakness Microcephaly Visual impairment Abnormality of the skeletal system Dystonia Abnormality of the pinna Steppage gait Hypermetropia Unsteady gait Tapered finger Single transverse palmar crease Delayed myelination Hip dysplasia Cerebellar vermis hypoplasia Stereotypy Drooling Optic nerve hypoplasia Overlapping toe Poor eye contact Facial hypotonia Scotoma Spastic paraparesis Bruxism Upgaze palsy Short stature Hearing impairment Myoclonus Postural instability Urinary incontinence Optic disc pallor Limb ataxia Torticollis Urinary urgency Hyperactive deep tendon reflexes Titubation Impaired distal vibration sensation Jerky ocular pursuit movements Impaired visuospatial constructive cognition Paraparesis Hypertonia Babinski sign Reduced visual acuity Abnormal pyramidal sign Spastic paraplegia Paraplegia Lower limb muscle weakness Peripheral axonal neuropathy Distal sensory impairment Sensory impairment Lower limb spasticity Clonus Foot dorsiflexor weakness Mild microcephaly Happy demeanor Abnormality of the voice Metopic synostosis Joint laxity Prominent nasal bridge Arachnodactyly Triangular face High myopia Lumbar hyperlordosis Tall stature Sparse eyebrow Large hands Disproportionate tall stature Megalencephaly Long foot Communicating hydrocephalus Expressive language delay Kyphoscoliosis Long neck Thick corpus callosum Severe expressive language delay Hypertrophic cardiomyopathy Hip dislocation Synophrys Wide nose Everted lower lip vermilion Ventricular hypertrophy Mitral regurgitation Joint contracture of the hand Congenital hip dislocation Prominent supraorbital ridges Pes planus Macrotia Failure to thrive Hypocalcemia Fever Diarrhea Immunodeficiency Recurrent infections Thrombocytopenia Pectus excavatum Encephalopathy Dry skin Lymphadenopathy Neutropenia Sepsis Ectodermal dysplasia Chronic diarrhea Encephalitis Proptosis Anhidrosis Episodic fever Amelogenesis imperfecta Progressive encephalopathy Heat intolerance Stomatitis Recurrent aphthous stomatitis Hypoplasia of the thymus Pyelonephritis Protracted diarrhea Myopia Frontal bossing Malar flattening Abnormality of the basal ganglia



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Congestive heart failure and Short foot, related diseases and genetic alterations Brachydactyly and Progressive hearing impairment, related diseases and genetic alterations Ptosis and Thick eyebrow, related diseases and genetic alterations Cardiomyopathy and Cerebellar hypoplasia, related diseases and genetic alterations Hypertension and Postaxial polydactyly, related diseases and genetic alterations Cataract and Lymphedema, related diseases and genetic alterations Intellectual disability and Frontal bossing, related diseases and genetic alterations

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