Flexion contracture, and Attention deficit hyperactivity disorder

Diseases related with Flexion contracture and Attention deficit hyperactivity disorder

In the following list you will find some of the most common rare diseases related to Flexion contracture and Attention deficit hyperactivity disorder that can help you solving undiagnosed cases.

Top matches:

NEDSGA is an autosomal dominant disorder characterized by global developmental delay apparent from infancy or early childhood, resulting in variable intellectual disability that can range from profound with absent speech to mild with an ability to attend special schools. Most affected individuals show irritability, stiffness, and hypertonia early in life, which progresses to spasticity and impaired gait later. Some patients may develop seizures of variable severity early in life (summary by Martin et al., 2017).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT SEIZURES AND GAIT ABNORMALITIES; NEDSGA

1q21.1 microduplication syndrome is a rare partial autosomal trisomy/tetrasomy with incomplete penetrance and variable expression characterized by macrocephaly, developmental delay, intellectual disability, psychiatric disturbances (autism spectrum disorder, attention deficit hyperactivity disorder, schizophrenia, mood disorders) and mild facial dysmorphism (high forehead, hypertelorism). Other associated features include congenital heart defects, hypotonia, short stature, scoliosis.

1Q21.1 MICRODUPLICATION SYNDROME Is also known as trisomy 1q21.1|dup(1)(q21.1)

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about 1Q21.1 MICRODUPLICATION SYNDROME

MRD57 is an autosomal dominant neurodevelopmental disorder with a highly variable phenotype. Most affected individuals have delayed psychomotor development apparent in infancy or early childhood, language delay, and behavioral abnormalities. Additional features may include hypotonia, feeding problems, gastrointestinal issues, and dysmorphic facial features (summary by Reijnders et al., 2018).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 57; MRD57

Other less relevant matches:

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 LYNCH SYNDROME

LYNCH SYNDROME Is also known as coca2|colon cancer, familial nonpolyposis, type 2|fcc2

Related symptoms:

  • Seizures
  • Neoplasm
  • Muscular hypotonia
  • Flexion contracture
  • Visual impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about LYNCH SYNDROME

Aarskog-Scott syndrome (AAS) is a rare developmental disorder characterized by facial, limbs and genital features, and a disproportionate acromelic short stature.

AARSKOG-SCOTT SYNDROME Is also known as aarskog syndrome|faciodigitogenital syndrome|faciogenital dysplasia

Related symptoms:

  • Short stature
  • Hypertelorism
  • Strabismus
  • Cleft palate
  • Cryptorchidism


SOURCES: ORPHANET MENDELIAN

More info about AARSKOG-SCOTT SYNDROME

Beta-mannosidosis is a very rare lysosomal storage disease characterized by developmental delay of varying severity and hearing loss, but that can manifest a wide phenotypic heterogeneity.

BETA-MANNOSIDOSIS Is also known as beta-mannosidase deficiency|beta-mannosidosis|lysosomal beta-mannosidase deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about BETA-MANNOSIDOSIS

The Lujan-Fryns syndrome or X-linked mental retardation (XLMR) with marfanoid habitus syndrome is a syndromic X-linked form of intellectual disability, associated with tall, marfanoid stature, distinct facial dysmorphism and behavioral problems.

X-LINKED INTELLECTUAL DISABILITY WITH MARFANOID HABITUS Is also known as lujan syndrome|mental retardation, x-linked, with marfanoid habitus|lujan-fryns syndrome

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about X-LINKED INTELLECTUAL DISABILITY WITH MARFANOID HABITUS

Xeroderma pigmentosum is an autosomal recessive disorder characterized by sun sensitivity and increased skin sensitivity to UV light, as well as an increased risk of skin cancer associated with a defect in nucleotide excision repair (NER). The XPF form of XP is usually relatively mild compared to other forms. Patients with XPF tend to have later onset of skin cancer. Some patients with XPF may develop neurologic impairment or growth defects, and are then classified as having Cockayne syndrome (summary by Kashiyama et al., 2013).For a general phenotypic description and a discussion of genetic heterogeneity of xeroderma pigmentosa, see XPA (OMIM ), and of Cockayne syndrome, see CSA (OMIM ).

XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP F; XPF Is also known as xp6|xp, group f|xeroderma pigmentosum vi

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Microcephaly
  • Scoliosis


SOURCES: MESH OMIM MENDELIAN

More info about XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP F; XPF

Duchenne muscular dystrophy (DMD) is a neuromuscular disease characterized by rapidly progressive muscle weakness and wasting due to degeneration of skeletal, smooth and cardiac muscle.

DUCHENNE MUSCULAR DYSTROPHY Is also known as dmd|duchenne muscular dystrophy|severe dystrophinopathy, duchenne type|muscular dystrophy, pseudohypertrophic progressive, duchenne type

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Scoliosis
  • Muscle weakness


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about DUCHENNE MUSCULAR DYSTROPHY

Top 5 symptoms//phenotypes associated to Flexion contracture and Attention deficit hyperactivity disorder

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Hyperactivity Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Flexion contracture and Attention deficit hyperactivity disorder. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Short stature Microcephaly Muscular hypotonia Feeding difficulties Scoliosis Behavioral abnormality Strabismus Cerebral atrophy Cognitive impairment Growth delay Ataxia Anxiety Intellectual disability, mild Autism Dilatation Constipation Hallucinations Delayed speech and language development Hypertelorism Abnormal facial shape Nystagmus Spasticity Neurological speech impairment Hypertonia

Rare Symptoms - Less than 30% cases

Obsessive-compulsive behavior Epicanthus Brachydactyly Diarrhea Intrauterine growth retardation Thin upper lip vermilion Hypoplasia of the maxilla Prominent nasal bridge Long face Hypertension Dysarthria Respiratory failure Camptodactyly of finger Toe walking Dysgraphia Cleft palate Joint hyperflexibility Congestive heart failure Abnormality of the dentition Dysphagia Cardiomyopathy Cerebellar atrophy Brain atrophy Pectus excavatum Recurrent infections Abnormal pyramidal sign Developmental regression Neoplasm Pes planus High palate Aggressive behavior Brachycephaly Frontal bossing Macrocephaly Chorea Cerebral cortical atrophy Cryptorchidism Cataract Neonatal hypotonia Autistic behavior Tremor Skeletal muscle atrophy Irritability Ptosis Atrial septal defect Hypoplasia of the corpus callosum Gait disturbance Specific learning disability Muscle weakness Schizophrenia Hearing impairment Spastic tetraplegia Recurrent respiratory infections Narrow nasal bridge Long nose Disproportionate tall stature Slender finger Emotional lability Communicating hydrocephalus Tics Ascending tubular aorta aneurysm Aortic root aneurysm Sensorineural hearing impairment Abnormality of the nervous system Proteinuria Deeply set eye Photophobia Dementia Renal insufficiency Anemia Abnormally folded helix Macroorchidism Cat cry Oppositional defiant disorder Low frustration tolerance Pendular nystagmus Velopharyngeal insufficiency Impaired social interactions Proximal amyotrophy Abnormality of the rib cage Aortic aneurysm Thenar muscle atrophy Abnormality of the voice Arachnodactyly Aspartylglucosaminuria Hypoplasia of the abdominal wall musculature Increased urinary disaccharide excretion Micrognathia Low-set ears Ventricular septal defect Agenesis of corpus callosum Papule Tortuosity of conjunctival vessels Prominent forehead High forehead Joint laxity Protruding ear Short philtrum Psychosis Nasal speech Angiokeratoma Deep philtrum Demyelinating peripheral neuropathy Subcortical cerebral atrophy Abnormality of the genitourinary system Aplasia/Hypoplasia of the corpus callosum Short chin Narrow face Open mouth Anorexia Dental crowding Urinary glycosaminoglycan excretion Angiokeratoma corporis diffusum Phonic tics Broad thumb Erythema Elevated serum creatine phosphokinase Astigmatism Limb-girdle muscular dystrophy Exertional dyspnea Difficulty climbing stairs Abnormality of color vision Calf muscle hypertrophy Myotonia Congenital muscular dystrophy Gowers sign Hypokalemia Hypoventilation Ventricular arrhythmia Exercise intolerance Progressive muscle weakness Waddling gait Sudden cardiac death Chest pain Macroglossia Distal amyotrophy Difficulty running Abnormal EKG Limb muscle weakness Shoulder girdle muscle atrophy Red-green dyschromatopsia Nocturnal hypoventilation Hemiatrophy Proximal lower limb amyotrophy Calf muscle pseudohypertrophy Muscle fiber necrosis Gastroparesis Proximal muscle weakness in lower limbs Myoglobinuria Intestinal pseudo-obstruction Gastrointestinal dysmotility Breech presentation Congenital stationary night blindness Shoulder girdle muscle weakness Limb-girdle muscle weakness Chromosome breakage Male pseudohermaphroditism Falls Dilated cardiomyopathy Muscle cramps Freckling Numerous pigmented freckles Seborrheic keratosis Cholangiocarcinoma Defective DNA repair after ultraviolet radiation damage Morphological abnormality of the central nervous system Verrucae Tubular atrophy Neoplasm of the skin Motor delay Bone marrow hypocellularity Cafe-au-lait spot Decreased body weight Cutaneous photosensitivity Microdontia Prominent nose Delayed myelination Progressive cerebellar ataxia Pain Respiratory insufficiency Muscular dystrophy Proximal muscle weakness Cough Nyctalopia Distal muscle weakness Scarring Respiratory tract infection Hyperlordosis Abnormality of the eye EEG abnormality Intellectual disability, severe Dyspnea Pneumonia Impulsivity Hyporeflexia Arrhythmia Vomiting Myopathy Blindness Neurodevelopmental delay Oral cleft Stridor Hypothyroidism Increased serum lactate Gliosis Neutropenia Abnormality of movement Leukemia Rigidity Myoclonus Neuronal loss in central nervous system Encephalopathy Dystonia Tall chin Microtia, first degree Hyperventilation Pointed chin Aciduria Abnormality of extrapyramidal motor function Recurrent otitis media 3-Methylglutaconic aciduria Weight loss Abdominal pain Depressivity Fatigue Visual impairment Congenital neutropenia Upper motor neuron dysfunction Progressive neurologic deterioration Dyslexia Progressive encephalopathy Acute myeloid leukemia Myeloid leukemia Opisthotonus Myelodysplasia Choreoathetosis Hoarse voice Hypertrichosis Malabsorption Failure to thrive Intellectual disability, moderate Gastroesophageal reflux Glaucoma Hypospadias Hydrocephalus Talipes equinovarus Exaggerated startle response Arthrogryposis multiplex congenita Delayed ability to walk Optic nerve hypoplasia Status epilepticus Tetraplegia Inability to walk Macrotia Absent speech Hip dislocation Hip dysplasia Otitis media Narrow mouth Broad nasal tip Joint hypermobility Microtia Blepharophimosis Craniosynostosis Telecanthus Upslanted palpebral fissure Tetralogy of Fallot Posteriorly rotated ears Midface retrusion Kyphosis Abnormality of the skeletal system Myopia Constrictive median neuropathy Relative macrocephaly Carcinoma Nausea and vomiting Laryngomalacia Short foot Shawl scrotum Broad palm Hyperextensible skin Round face Delayed eruption of teeth Single transverse palmar crease Everted lower lip vermilion External ear malformation Small hand Short palm Cleft upper lip Talipes Finger syndactyly Broad forehead Low-set, posteriorly rotated ears Megalocornea Broad foot Clinodactyly of the 5th finger Generalized tonic-clonic seizures Spastic tetraparesis Narrow palpebral fissure Intention tremor Epileptic encephalopathy Unsteady gait Lower limb muscle weakness Hepatosplenomegaly Genu recurvatum Babinski sign Abnormality of metabolism/homeostasis Ventriculomegaly Peripheral neuropathy Abnormal vertebral segmentation and fusion Abnormality of the cervical spine High anterior hairline Umbilical hernia Inguinal hernia Paresthesia Visual field defect Pituitary adenoma Neoplasm of the pancreas Hepatocellular carcinoma Ovarian neoplasm Neuroblastoma Colon cancer Basal cell carcinoma Prostate cancer Hemiplegia/hemiparesis Breast carcinoma Increased intracranial pressure Memory impairment Gastrointestinal hemorrhage Migraine Dyskinesia Intestinal polyposis Amaurosis fugax Abnormality of cardiovascular system morphology Cardiac diverticulum Long philtrum Short neck Anteverted nares Downslanted palpebral fissures Wide nasal bridge Urinary tract neoplasm Neoplasm of the rectum Leiomyosarcoma Abnormality of creatine metabolism Neoplasm of the skeletal system Benign neoplasm of the central nervous system Neoplasm of the thyroid gland Agnosia Glioblastoma multiforme Pancreatic adenocarcinoma Absent muscle dystrophin expression


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