Intellectual disability, severe, and Short palm

Diseases related with Intellectual disability, severe and Short palm

In the following list you will find some of the most common rare diseases related to Intellectual disability, severe and Short palm that can help you solving undiagnosed cases.

Top matches:

Cerebellar ataxia, mental retardation, and dysequilibrium syndrome (CAMRQ) is a genetically heterogeneous disorder characterized by congenital cerebellar ataxia and mental retardation (summary by Gulsuner et al., 2011).For a discussion of genetic heterogeneity of CAMRQ, see CAMRQ1 (OMIM ).

CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 2; CAMRQ2 Is also known as cerebellar ataxia and mental retardation with or without quadrupedal locomotion 2

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Ataxia


SOURCES: MESH OMIM MENDELIAN

More info about CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 2; CAMRQ2

Early infantile epileptic encephalopathy-2 is an X-linked dominant severe neurologic disorder characterized by onset of seizures in the first months of life and severe global developmental delay resulting in mental retardation and poor motor control. Other features include lack of speech development, subtle dysmorphic facial features, sleep disturbances, gastrointestinal problems, and stereotypic hand movements. There is some phenotypic overlap with Rett syndrome (OMIM ), but EIEE2 is considered to be a distinct entity (summary by Fehr et al., 2013).For a general phenotypic description and a discussion of genetic heterogeneity of EIEE, see EIEE1 (OMIM ).

CDKL5-RELATED EPILEPTIC ENCEPHALOPATHY Is also known as issx2|cdkl5 deficiency disorder|infantile spasm syndrome, x-linked 2

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about CDKL5-RELATED EPILEPTIC ENCEPHALOPATHY

Syndromic X-linked intellectual disability due to JARID1C mutation is characterised by mild to severe intellectual deficit associated with variable clinical manifestations including spasticity, cryptorchidism, maxillary hypoplasia, alopecia areata, epilepsy, short stature, impaired speech and behavioural problems. To date, it has been described in less than 15 families. Transmission is X-linked recessive and the syndrome is caused by mutations in the JARID1C (SMCX) gene encoding a JmjC-domain protein with histone demethylase activity.

SYNDROMIC X-LINKED INTELLECTUAL DISABILITY DUE TO JARID1C MUTATION Is also known as mental retardation, x-linked, syndromic, jarid1c-related|mrxsj

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Generalized hypotonia
  • Microcephaly


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about SYNDROMIC X-LINKED INTELLECTUAL DISABILITY DUE TO JARID1C MUTATION

Other less relevant matches:

High match DPM1-CDG

The CDG (Congenital Disorders of Glycosylation) syndromes are a group of autosomal recessive disorders affecting glycoprotein synthesis. CDG syndrome type Ie is characterised by psychomotor delay, seizures, hypotonia, facial dysmorphism and microcephaly. Ocular anomalies are also very common.

DPM1-CDG Is also known as cdg1e|cdg syndrome type ie|congenital disorder of glycosylation type 1e|carbohydrate deficient glycoprotein syndrome type ie|cdg-ie|congenital disorder of glycosylation type ie|cdgie|dol-p-mannosyltransferase deficiency|cdg ie

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about DPM1-CDG

The newly described 2q23.1 microdeletion syndrome includes severe intellectual deficit with pronounced speech delay, behavioral abnormalities including hyperactivity and inappropriate laughter, short stature and seizures.

2Q23.1 MICRODELETION SYNDROME Is also known as pseudo-angelman syndrome|del(2)(q23.1)|monosomy 2q23.1

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about 2Q23.1 MICRODELETION SYNDROME

Crisponi/cold-induced sweating syndrome is an autosomal recessive disorder characterized in the neonatal period by orofacial weakness with impaired sucking and swallowing resulting in poor feeding necessitating medical intervention. Affected infants show a tendency to startle, with contractions of the facial muscles in response to tactile stimuli or during crying, trismus, abundant salivation, and opisthotonus. During the first year, most infants have spiking fevers. These features, referred to as 'Crisponi syndrome' in infancy, can result in early death without advanced care. After the first 2 years, the abnormal muscle contractions and fevers abate, and most patients show normal psychomotor development. From childhood onward, the most disabling symptoms stem from impaired thermoregulation and disabling abnormal sweating, which can be treated with clonidine. Patients have hyperhidrosis, mainly of the upper body, in response to cold temperatures, and sweat very little with heat. Other features include characteristic facial anomalies, such as round face, chubby cheeks, micrognathia, high-arched palate, low-set ears, and depressed nasal bridge, dental decay, camptodactyly, and progressive kyphoscoliosis (summary by Hahn et al., 2010). Genetic Heterogeneity of Crisponi/Cold-Induced Sweating SyndromeCrisponi/cold-induced sweating syndrome-2 (CISS2 ), which is clinically indistinguishable from CISS1, is caused by mutation in the CLCF1 gene (OMIM ) on chromosome 11q13. CISS3 (OMIM ) is caused by mutation in the KLHL7 gene (OMIM ) on chromosome 7p15.

CRISPONI/COLD-INDUCED SWEATING SYNDROME 1; CISS1 Is also known as crisponi syndrome|sohar-crisponi syndrome|muscle contractions, tetanoform, with characteristic face, camptodactyly, hyperthermia, and sudden death

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Scoliosis
  • Micrognathia


SOURCES: MESH OMIM MENDELIAN

More info about CRISPONI/COLD-INDUCED SWEATING SYNDROME 1; CISS1

Marinesco-Sjögren syndrome (MSS) belongs to the group of autosomal recessive cerebellar ataxias. Cardinal features of MSS are cerebellar ataxia, congenital cataract, and delayed psychomotor development.

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about MARINESCO-SJÖGREN SYNDROME

This syndrome is characterized by the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism.

CATARACT-INTELLECTUAL DISABILITY-HYPOGONADISM SYNDROME Is also known as martsolf syndrome|cataract-mental retardation-hypogonadism

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about CATARACT-INTELLECTUAL DISABILITY-HYPOGONADISM SYNDROME

Genitopatellar syndrome is a rare congenital patellar anomaly syndrome characterized by patellar aplasia or hypoplasia associated with microcephaly, characteristic coarse facial features (microcephaly, bitemporal narrowing, large, broad nose with high nasal bridge, prominent cheeks and micro/retrognathia or prognathism), arthrogryposis of the hips and knees, urogenital abnormalities and intellectual deficiency.

GENITOPATELLAR SYNDROME Is also known as absent patellae-scrotal hypoplasia-renal anomalies-facial dysmorphism-intellectual disability syndrome|absent patellae, scrotal hypoplasia, renal anomalies, facial dysmorphism, and mental retardation

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about GENITOPATELLAR SYNDROME

Intellectual disability-sparse hair-brachydactyly syndrome is a very rare condition of unknown etiology consisting of short stature, hypotrichosis, brachydactyly with cone-shaped epiphyses, epilepsy and severe mental delay. After the initial delineation of this syndrome by Nicolaides and Baraitser in 1993, only five more patients were published in the literature up to now.

INTELLECTUAL DISABILITY-SPARSE HAIR-BRACHYDACTYLY SYNDROME Is also known as sparse hair and mental retardation|nbs|nicolaides-baraitser syndrome

Related symptoms:

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


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about INTELLECTUAL DISABILITY-SPARSE HAIR-BRACHYDACTYLY SYNDROME

Top 5 symptoms//phenotypes associated to Intellectual disability, severe and Short palm

Symptoms // Phenotype % cases
Intellectual disability Very Common - Between 80% and 100% cases
Global developmental delay Very Common - Between 80% and 100% cases
Generalized hypotonia Common - Between 50% and 80% cases
Microcephaly Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Intellectual disability, severe and Short palm. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases

Short stature

Uncommon Symptoms - Between 30% and 50% cases

High palate

Common Symptoms - More than 50% cases

Micrognathia

Uncommon Symptoms - Between 30% and 50% cases

Cryptorchidism Strabismus Absent speech Muscular hypotonia Depressed nasal bridge Abnormal facial shape Feeding difficulties Flexion contracture Delayed speech and language development Scoliosis Cerebral atrophy Ataxia Long philtrum Kyphoscoliosis Deeply set eye Spasticity Brachydactyly Talipes equinovarus Downslanted palpebral fissures Smooth philtrum Growth delay Low-set ears Severe global developmental delay Coarse facial features Small hand Micropenis Gait ataxia Hyporeflexia Cognitive impairment Intellectual disability, progressive Cerebellar atrophy Short foot Tapered finger Autism Sandal gap Clinodactyly Highly arched eyebrow Everted lower lip vermilion Apnea Hearing impairment Abnormal pyramidal sign Synophrys Postnatal growth retardation Feeding difficulties in infancy Kyphosis Brachycephaly Malar flattening Knee flexion contracture EEG abnormality Postnatal microcephaly Gastroesophageal reflux Pes planus Short metacarpal High, narrow palate Full cheeks Wide nose Failure to thrive Motor delay Severe short stature Aggressive behavior Prominent nasal bridge Anteverted nares Short phalanx of finger Intellectual disability, moderate Optic atrophy Encephalopathy

Rare Symptoms - Less than 30% cases

Patent ductus arteriosus Pectus carinatum Respiratory distress Hypertelorism Nystagmus Edema Febrile seizures Myopathy Camptodactyly Microcornea Muscular dystrophy Hypergonadotropic hypogonadism Congenital cataract Recurrent infections Sparse scalp hair Cataract Ptosis Lower limb hyperreflexia Abnormality of finger Ventriculomegaly Recurrent urinary tract infections Talipes Broad nasal tip Epicanthus Peripheral neuropathy Abnormality of the skeletal system Abnormality of the metacarpal bones Blepharophimosis Hypogonadism Polyhydramnios Cerebral cortical atrophy Hypertonia Cleft palate Fever Short metatarsal Osteoporosis Short nose Abnormality of cardiovascular system morphology Retrognathia Autistic behavior Wide mouth Thick eyebrow Infantile muscular hypotonia Downturned corners of mouth Prominent nose Hip dysplasia Low anterior hairline Absence seizures Widely spaced teeth Furrowed tongue Elevated serum creatine phosphokinase Specific learning disability Thick lower lip vermilion Heterotopia Truncal ataxia Epileptic encephalopathy Protruding ear Thin upper lip vermilion Mandibular prognathia Broad forehead Pectus excavatum Poor speech Myopia Stereotypy Cerebral visual impairment Prominent forehead Constipation Sleep disturbance Thoracic scoliosis Hypermetropia Upslanted palpebral fissure Intention tremor Focal-onset seizure Tremor Falls Hypoplasia of the corpus callosum Sensorineural hearing impairment Delayed myelination Cerebellar hypoplasia Dysarthria Dysmetria Interphalangeal joint contracture of finger Inability to walk Hypoplasia of the maxilla Polymicrogyria Polyneuropathy Wide nasal base Broad philtrum Growth hormone deficiency Hypotelorism Enlarged joints Lumbar hyperlordosis Eclabion Low posterior hairline Peripheral axonal neuropathy Broad columella Clonus Short toe Abnormality of the hand Metatarsus adductus Spastic diplegia Prematurely aged appearance Bilateral cryptorchidism Epiphyseal dysplasia Excessive wrinkled skin Abnormal dermatoglyphics Abnormality of the antihelix Ulnar deviation of finger Tracheomalacia Hypogonadotrophic hypogonadism Cardiac arrest Abnormal hair pattern Abnormality of the testis Broad distal phalanx of finger Thick nasal alae Short philtrum Curly eyelashes Clubbing of toes Centrally nucleated skeletal muscle fibers Rimmed vacuoles External genital hypoplasia Myopathic facies Congenital muscular dystrophy Cubitus valgus Prominent eyelashes Avascular necrosis of the capital femoral epiphysis Dysphonia Prominent interphalangeal joints Unilateral narrow palpebral fissure Type I diabetes mellitus Coxa valga Muscle stiffness Sensorimotor neuropathy Short thumb Mild global developmental delay Autophagic vacuoles Hyperlordosis Congestive heart failure Low-set, posteriorly rotated ears Muscular hypotonia of the trunk Joint laxity Posteriorly rotated ears Recurrent respiratory infections Midface retrusion Microphthalmia Cardiomyopathy Muscle fiber necrosis Abnormal aldolase level Aplasia/Hypoplasia involving the skeletal musculature Abnormal lactate dehydrogenase activity Cerebellar cortical atrophy Metatarsus valgus Abnormal levels of creatine kinase in blood Abnormality of the cerebellar vermis Muscle flaccidity Abnormal toenail morphology Hernia Echolalia Short columella Limb ataxia Labial hypoplasia Patellar aplasia Triangular face Hypoplastic ilia Beaking of vertebral bodies Hypoplastic labia majora Wide intermamillary distance Patellar dislocation Colpocephaly Hip contracture Eczema Anteriorly placed anus Ectopic kidney Bilateral talipes equinovarus Clitoral hypertrophy Radioulnar synostosis Laryngomalacia Thin vermilion border Hypotrichosis Scrotal hypoplasia Periventricular gray matter heterotopia Hypoplastic inferior pubic rami Scrotal hypospadias Enlarged labia minora Absent scrotum Small scrotum Tongue thrusting Obesity Abnormal bone structure Talipes calcaneovalgus Small for gestational age Clitoral hypoplasia Hypoplastic ischia Calcaneovalgus deformity Delayed skeletal maturation Alopecia Sparse hair Primary hypothyroidism Patellar hypoplasia Abnormality of the genitourinary system Multicystic kidney dysplasia Epileptic spasms Dysphasia Overfolded helix Cone-shaped epiphysis Atrial septal defect Absent eyebrow Ventricular septal defect Dysphagia Slender ulna Aphasia Narrow nasal bridge Drooling Protruding tongue Prominent nipples Prominent antitragus Intrauterine growth retardation Osteopathia striata Abnormality of the distal phalanx of finger Talipes valgus Misalignment of teeth Mutism Accelerated skeletal maturation Congenital hip dislocation Abnormality of the kidney Status epilepticus Fine hair Narrow forehead Ectodermal dysplasia Delayed eruption of teeth Pulmonary hypoplasia Delayed puberty Arthrogryposis multiplex congenita Hydronephrosis Hypospadias Short palpebral fissure Broad-based gait Hypothyroidism Long eyelashes Abnormality of epiphysis morphology Agenesis of corpus callosum Abnormal heart morphology Joint dislocation Narrow palpebral fissure Broad fingertip Respiratory insufficiency Progressive muscle weakness Alopecia areata Splenomegaly Hepatomegaly Hypertension Talipes calcaneovarus Small forehead Low frustration tolerance Lower limb hypertonia Diastema Abnormality of the eye Shuffling gait Distal lower limb amyotrophy Facial hypotonia Restlessness Multiple cafe-au-lait spots Progressive spastic paraplegia Large hands Decreased body weight Elevated hepatic transaminase Retinopathy Short distal phalanx of finger Flat occiput Type I transferrin isoform profile Abnormal myelination Prolonged partial thromboplastin time Deep venous thrombosis Upper limb undergrowth Ankle contracture Weak cry Increased variability in muscle fiber diameter Trigonocephaly Dental malocclusion Poor suck Abnormality of vision Hemangioma Venous thrombosis Decreased liver function Telangiectasia Progressive neurologic deterioration Nail dysplasia Decreased testicular size Paraplegia Hypoglycosylation of alpha-dystroglycan Aplasia of the inferior half of the cerebellar vermis Sloping forehead Generalized myoclonic seizures Thick vermilion border Developmental regression Respiratory failure Myoclonus Intellectual disability, mild Blindness Atrophy of the dentate nucleus Intellectual disability, profound Abnormality of the neck Thoracic kyphosis Cortical dysplasia Global brain atrophy Dysdiadochokinesis Lissencephaly Brain atrophy Hirsutism Apraxia Hypsarrhythmia Spastic paraplegia Infantile encephalopathy Camptodactyly of finger Macrotia Babinski sign Macrocephaly Hyperreflexia EEG with generalized slow activity Thoracolumbar kyphoscoliosis Multifocal seizures Mood swings Tetraparesis Developmental stagnation Bruxism Hyperventilation Poor eye contact Infantile spasms Loss of consciousness Spastic tetraparesis Progressive microcephaly Pontocerebellar atrophy Abnormal macular morphology Hypertrichosis Radial deviation of finger Malignant hyperthermia Episodic fever Acute kidney injury Limited elbow extension Opisthotonus Disproportionate tall stature Overlapping toe Keratitis Nasal speech Trismus Adducted thumb Elbow flexion contracture Hypohidrosis Generalized-onset seizure Dehydration Cyanosis Underdeveloped nasal alae Round face Narrow nose Central apnea Sudden cardiac death Muscle weakness Decreased antibody level in blood Progressive cerebellar ataxia Dyskinesia Hip dislocation Neurological speech impairment Rigidity Areflexia Skeletal muscle atrophy Cold-induced sweating Large face Facial tics Smooth tongue Hypernatremic dehydration Bilateral camptodactyly Unexplained fevers Hypopnea Temperature instability Velopharyngeal insufficiency Limitation of joint mobility Carious teeth Reduced antithrombin III activity Facial asymmetry Finger clinodactyly Generalized hirsutism Dental crowding Open mouth Hypoplasia of penis Esotropia Bulbous nose Astigmatism Microtia Tented upper lip vermilion Hyperactivity Clinodactyly of the 5th finger Behavioral abnormality Vomiting Frontal bossing Visual impairment Reduced protein S activity Reduced protein C activity Short chin Focal impaired awareness seizure Dolichocephaly Wide nasal bridge Attention deficit hyperactivity disorder Irritability Facial palsy Dyspnea Narrow mouth Hyperhidrosis Renal insufficiency Short neck Pain Language impairment Abnormality of lower lip Paroxysmal bursts of laughter Hemifacial hypoplasia Macrodontia Short attention span Polyphagia Cupped ear Self-injurious behavior Prominent proximal interphalangeal joints


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