Abnormal facial shape, and Bradykinesia

Diseases related with Abnormal facial shape and Bradykinesia

In the following list you will find some of the most common rare diseases related to Abnormal facial shape and Bradykinesia 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 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 SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION; SSMED


In patients with SSMED, short stature and microcephaly are apparent at birth, and there is progressive postnatal growth failure. Endocrine dysfunction, including hypergonadotropic hypogonadism, multinodular goiter, and diabetes mellitus, is present in affected adults. Progressive ataxia has been reported in some patients, with onset ranging from the second to fifth decade of life. In addition, a few patients have developed tumors, suggesting that there may be a predisposition to tumorigenesis. In contrast to syndromes involving defects in other components of the nonhomologous end-joining (NHEJ) complex (see, e.g., {606593}), no clinically overt immunodeficiency has been observed in SSMED, although laboratory analysis has revealed lymphopenia or borderline leukopenia in some patients (Murray et al., 2015; Bee et al., 2015; de Bruin et al., 2015; Guo et al., 2015).

Related symptoms:

  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Microcephaly
  • Ataxia


SOURCES: OMIM MENDELIAN

More info about SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION; SSMED

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Other less relevant matches:

Medium match INTELLECTUAL DISABILITY-CATARACTS-CALCIFIED PINNAE-MYOPATHY SYNDROME


Intellectual disability-cataracts-calcified pinnae-myopathy syndrome is a rare, genetic intellectual disability syndrome characterized by macrocephaly, hypotonia, dysmorphic facial features (wide forehead, ptosis, downslanting palpebral fissures, enlarged and calcified external ears, large jaw), sparse body hair, tall stature, and intellectual disability. Hearing loss, insulin-resistant diabetes, and progressive distal muscle wasting (leading to joint contractures) have also been reported in adulthood. Rare manifestations include behavioral abnormalities (aggression and restlessness), hypothyroidism, cerebral calcification, ataxia, and peripheral neuropathy.

INTELLECTUAL DISABILITY-CATARACTS-CALCIFIED PINNAE-MYOPATHY SYNDROME Is also known as primrose syndrome|ossified ear cartilages with mental deficiency, muscle wasting, and bony changes

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about INTELLECTUAL DISABILITY-CATARACTS-CALCIFIED PINNAE-MYOPATHY SYNDROME

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 X-LINKED CREATINE TRANSPORTER DEFICIENCY


X-linked creatine transporter deficiency (CRTR-D) is a creatine deficiency syndrome characterized clinically by global developmental delay/ intellectual disability (DD/ID) with prominent speech/language delay, autistic behavior and seizures.

X-LINKED CREATINE TRANSPORTER DEFICIENCY Is also known as slc6a8 deficiency|mental retardation, x-linked, with creatine transport deficiency|creatine deficiency syndrome, x-linked|mental retardation, x-linked, with seizures, short stature, and midface hypoplasia|creatine transporter deficiency|creatine transport

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about X-LINKED CREATINE TRANSPORTER DEFICIENCY

Low match 3-METHYLGLUTACONIC ACIDURIA TYPE 7


3-Methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia (MEGCANN) is an autosomal recessive inborn error of metabolism characterized primarily by increased levels of 3-methylglutaconic acid (3-MGA) associated with neurologic deterioration and neutropenia. The phenotype is highly variable: most patients have infantile onset of a progressive encephalopathy with various movement abnormalities and delayed psychomotor development, although rare patients with normal neurologic development have been reported. Other common, but variable, features include cataracts, seizures, and recurrent infections (summary by Wortmann et al., 2015 and Saunders et al., 2015).For a general phenotypic description and a discussion of genetic heterogeneity of 3-methylglutaconic aciduria, see MGCA1 (OMIM ).

3-METHYLGLUTACONIC ACIDURIA TYPE 7 Is also known as 3-methylglutaconic aciduria-cataract-neurologic involvement-neutropenia syndrome|mga7|mgca7|3-methylglutaconic aciduria, type vii

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about 3-METHYLGLUTACONIC ACIDURIA TYPE 7

Low match GLYCINE ENCEPHALOPATHY WITH NORMAL SERUM GLYCINE


Glycine encephalopathy with normal serum glycine is a severe metabolic disorder characterized by arthrogryposis multiplex congenita, joint hyperlaxity, lack of neonatal respiratory effort, axial hypotonia, hypertonia with pronounced clonus, and delayed psychomotor development. Some patients may have dysmorphic facial features and/or brain imaging abnormalities. Laboratory studies show increased CSF glycine and normal or only mildly increased serum glycine. Most patients die in infancy. The disorder is similar to, but distinct from, glycine encephalopathy (GCE ) due to mutations in genes encoding the glycine cleavage system (summary by Kurolap et al., 2016).

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Failure to thrive
  • Abnormal facial shape


SOURCES: OMIM MENDELIAN

More info about GLYCINE ENCEPHALOPATHY WITH NORMAL SERUM GLYCINE

Low match ALG13-CDG


ALG13-CDG is a form of congenital disorders of N-linked glycosylation characterized by microcephaly, hepatomegaly, edema of the extremities, intractable seizures, recurrent infections and increased bleeding tendency. The disease is caused by mutations in the gene ALG13 (Xq23).

ALG13-CDG Is also known as cdg syndrome type is|congenital disorder of glycosylation type is|cdg1s|cdg-is|congenital disorder of glycosylation type 1s

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about ALG13-CDG

Low match WOODHOUSE-SAKATI SYNDROME


Woodhouse-Sakati syndrome is a multisystemic disorder characterized by hypogonadism, alopecia, diabetes mellitus, intellectual deficit and extrapyramidal signs with choreoathetoid movements and dystonia.

WOODHOUSE-SAKATI SYNDROME Is also known as hypogonadism, alopecia, diabetes mellitus, mental retardation, deafness, and extrapyramidal syndrome|extrapyramidal disorder, progressive, with primary hypogonadism, mental retardation, and alopecia|diabetes-hypogonadism-deafness-intellectual disability s

Related symptoms:

  • Intellectual disability
  • Seizures
  • Hearing impairment
  • Scoliosis
  • Hypertelorism


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about WOODHOUSE-SAKATI SYNDROME

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

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

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

Uncommon Symptoms - Between 30% and 50% cases


Microcephaly Feeding difficulties Abnormal pyramidal sign Flexion contracture Scoliosis Ataxia Clumsiness Pes cavus Cognitive impairment Ptosis Gait disturbance Hypoplasia of the corpus callosum Hypothyroidism Hearing impairment Short stature Hypertonia Developmental regression Long face Broad forehead Diabetes mellitus Encephalopathy Growth delay Intellectual disability, severe Anteverted nares Abnormality of extrapyramidal motor function Hypergonadotropic hypogonadism Cataract Peripheral neuropathy Prominent nasal bridge Attention deficit hyperactivity disorder Recurrent infections Midface retrusion Babinski sign Arthrogryposis multiplex congenita Hypogonadism Dysarthria Intellectual disability, mild Hip dysplasia Cardiomyopathy Nystagmus Motor delay Hypertelorism Dysphagia Optic atrophy Choreoathetosis Dystonia Hyperreflexia

Rare Symptoms - Less than 30% cases


Self-mutilation Synophrys Sensory neuropathy Failure to thrive Brain atrophy Spasticity Polyneuropathy Triangular face Infantile spasms Sparse hair Hypermetropia Talipes equinovarus Diarrhea Rigidity Deeply set eye High forehead Mandibular prognathia Micropenis Feeding difficulties in infancy Sparse eyebrow Abnormality of metabolism/homeostasis Hydrocephalus Short distal phalanx of finger Protruding ear Sparse scalp hair Aggressive behavior Clonus Cerebral atrophy Respiratory failure Malar flattening Behavioral abnormality Plagiocephaly Delayed myelination Muscular hypotonia of the trunk Insulin-resistant diabetes mellitus Abnormality of the skeletal system Downslanted palpebral fissures Macrocephaly Abnormality of movement Hip contracture Neonatal hypotonia Truncal obesity Bilateral cryptorchidism Low-set ears Short chin Hyperactivity Myopathic facies Autism Decreased testicular size Myopathy Narrow face Neoplasm Areflexia High palate Sensorineural hearing impairment Cryptorchidism Micrognathia Narrow chest Anemia Difficulty walking Gait ataxia Cerebellar atrophy Myoclonus Long philtrum Ventriculomegaly External ophthalmoplegia Redundant skin Cachexia Heart block Aganglionic megacolon Autoimmune thrombocytopenia Tall stature Stereotypy Exotropia Language impairment Hypoplasia of the uterus Abnormal bleeding Chronic constipation Mask-like facies Athetosis Aplasia/Hypoplasia of the eyebrow Flat occiput Anodontia Speech apraxia Ileus Premature ovarian insufficiency Hyperlipidemia Impaired social interactions Urethral stenosis Duodenal ulcer Abnormality of creatine metabolism Purpura Open mouth Autistic behavior Chorea Excessive daytime somnolence Hypoplasia of the fallopian tube Reduced dihydropyrimidine dehydrogenase activity Extrapyramidal dyskinesia Intractable diarrhea Morphological abnormality of the pyramidal tract Reduced consciousness/confusion Short phalanx of finger Progressive extrapyramidal movement disorder Cholestasis Metabolic acidosis Dyskinesia Cirrhosis Anal atresia Abnormality of the cerebral white matter Muscular hypotonia Vomiting Parkinsonism Decreased serum testosterone level Joint hypermobility Joint hyperflexibility Ophthalmoplegia Underfolded superior helices Irritability Intellectual disability, moderate Decreased serum estradiol Decreased serum insulin-like growth factor 1 Abnormal T-wave Abnormal spermatogenesis Increased thyroid-stimulating hormone level Constipation Absent speech Streak ovary Poor hand-eye coordination Myocardial infarction Hypogonadotrophic hypogonadism Deep philtrum Genu recurvatum Weak cry Overlapping toe Oral-pharyngeal dysphagia Poor eye contact Trigonocephaly Elbow flexion contracture Exaggerated startle response Long eyelashes Esotropia Abnormality of the foot Dolichocephaly Type I transferrin isoform profile Hip dislocation Abnormality of brain morphology Hand clenching Hyperglycinemia Joint laxity Small hand Hypsarrhythmia Decreased body weight Cerebral visual impairment Horizontal nystagmus Sleep disturbance Microretrognathia EEG abnormality Fetal distress Poor head control Coarse facial features Hepatomegaly Adducted thumb Visual impairment Nonketotic hyperglycinemia Global brain atrophy Apnea Retrognathia Hallucinations Dental malocclusion Gliosis Neutropenia Camptodactyly Hypotrichosis Delayed puberty Prominent nose Amenorrhea Aciduria Dehydration Bilateral sensorineural hearing impairment Psychosis Fine hair Leukemia Epileptic encephalopathy Primary amenorrhea Increased serum lactate Neuronal loss in central nervous system Hypertension Upper motor neuron dysfunction Depressed nasal bridge Abnormality of lateral ventricle Congenital neutropenia Frontal bossing 3-Methylglutaconic aciduria Dysgraphia Dyslexia Mental deterioration Alopecia Progressive encephalopathy Acute myeloid leukemia Myeloid leukemia Opisthotonus Myelodysplasia Progressive neurologic deterioration Lethargy Thickened skin Acidosis Postnatal growth retardation Broad nasal tip Falls Dysmetria Dilated cardiomyopathy Small for gestational age Short philtrum Retinopathy Severe short stature Renal agenesis Inguinal hernia Clinodactyly Obesity Hernia Thrombocytopenia Immunodeficiency Tremor Progressive cerebellar ataxia Convex nasal ridge Strabismus Abnormal lung morphology Slurred speech Goiter Leukopenia Acanthosis nigricans Bone marrow hypocellularity Lymphopenia Insulin resistance Broad-based gait Limb undergrowth Cutaneous photosensitivity Renal hypoplasia Epidermal acanthosis Apraxia Hypotelorism Sloping forehead Pigmentary retinopathy Intrauterine growth retardation Neuromuscular dysphagia Postural tremor Titubation Limb muscle weakness Polyhydramnios Hyporeflexia Impaired visuospatial constructive cognition Upgaze palsy Jerky ocular pursuit movements Impaired distal vibration sensation Difficulty running Muscle stiffness Hyperactive deep tendon reflexes Urinary urgency Torticollis Limb ataxia Optic disc pallor Urinary incontinence Postural instability Waddling gait Exercise intolerance Fatigable weakness of bulbar muscles Nemaline bodies Increased muscle lipid content Generalized limb muscle atrophy Reduced vital capacity Poor fine motor coordination Slender build Breech presentation Type 1 muscle fiber predominance Bulbar signs Scapular winging Fetal akinesia sequence Facial diplegia Neck muscle weakness Spinal rigidity Mildly elevated creatine phosphokinase Increased variability in muscle fiber diameter EMG: myopathic abnormalities Respiratory insufficiency due to muscle weakness Dysdiadochokinesis Unilateral renal agenesis Superiorly displaced ears Ankle clonus Poor coordination Irregular vertebral endplates Restlessness Striae distensae Congenital hypothyroidism Sparse body hair Basal ganglia calcification Mixed hearing impairment Progressive gait ataxia Anonychia Metatarsus adductus Melanocytic nevus Self-injurious behavior Schizophrenia Abnormal palate morphology Osteolysis Thoracic kyphosis Broad face Knee flexion contracture Absent axillary hair Calcification of the auricular cartilage Increased size of the mandible Absent facial hair Posterior scalloping of vertebral bodies Torus palatinus Motor tics Basilar impression Posterior polar cataract Dystrophic fingernails Abnormal glucose tolerance Narrow iliac wings Ectopic calcification Recurrent ear infections Bone cyst Generalized osteoporosis Tics Spastic paraparesis Paraparesis Sensory axonal neuropathy Misalignment of teeth Skeletal muscle atrophy Long neck Gastrointestinal stroma tumor Multinodular goiter Glioma Chronic lung disease Shuffling gait Low hanging columella Microphthalmia Increased circulating gonadotropin level Abnormality of lipid metabolism Cerebellar vermis atrophy Long nose Cortical gyral simplification Ectopic kidney High pitched voice Kyphosis Pectus excavatum Gynecomastia Downturned corners of mouth Abnormal form of the vertebral bodies Thick lower lip vermilion Cerebral calcification Otitis media Nevus Hypoplasia of the maxilla Neurodegeneration Distal amyotrophy Agenesis of corpus callosum Genu valgum Congenital cataract Conductive hearing impairment Osteopenia Macrotia Narrow mouth Brachycephaly Osteoporosis Progressive alopecia



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