Intellectual disability, severe, and Camptodactyly

Diseases related with Intellectual disability, severe and Camptodactyly

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

Top matches:

MENTAL RETARDATION, AUTOSOMAL RECESSIVE 7; MRT7 Is also known as mrt22|mental retardation, autosomal recessive 22

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Microcephaly
  • Hypertelorism


SOURCES: OMIM MESH MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL RECESSIVE 7; MRT7

Related symptoms:

  • Intellectual disability
  • Growth delay
  • Micrognathia
  • Intrauterine growth retardation
  • Ventricular septal defect


SOURCES: OMIM MENDELIAN

More info about JOUBERT SYNDROME 18; JBTS18

SLC35A3-CDG is a form of congenital disorders of N-linked glycosylation characterized by distal arthrogryposis (mild flexion contractures of the fingers, deviation of the distal phalanges, swan-neck deformity), retromicrognathia, general muscle hypotonia, delayed psychomotor development, autism spectrum disorder (speech delay, abnormal use of speech, difficulties in initiating, understanding and maintaining social interaction, limited non-verbal communication and repetitive behavior), seizures, microcephaly and mild to moderate intellectual disability that becomes apparent with age. The disease is caused by mutations in the gene SLC35A3 (1p21).

AUTISM SPECTRUM DISORDER-EPILEPSY-ARTHROGRYPOSIS SYNDROME Is also known as slc35a3-cdg

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTISM SPECTRUM DISORDER-EPILEPSY-ARTHROGRYPOSIS SYNDROME

Other less relevant matches:

Hennekam lymphangiectasia-lymphedema syndrome is an autosomal recessive disorder characterized by generalized lymphatic dysplasia affecting various organs, including the intestinal tract, pericardium, and limbs. Additional features of the disorder include facial dysmorphism and cognitive impairment (summary by Alders et al., 2014).For a discussion of genetic heterogeneity of Hennekam lymphangiectasia-lymphedema syndrome, see HKLLS1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Hearing impairment
  • Microcephaly
  • Growth delay


SOURCES: OMIM MENDELIAN

More info about HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 2; HKLLS2

Waardenburg syndrome type 3 is an auditory-pigmentary syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes; congenital sensorineural hearing loss; presence of 'dystopia canthorum,' the lateral displacement of the ocular inner canthi; and upper limb abnormalities (reviews by Read and Newton, 1997 and Pingault et al., 2010). WS type 3 is also referred to as 'Klein-Waardenburg syndrome' (Gorlin et al., 1976). Clinical Variability of Waardenburg Syndrome Types 1-4Waardenburg syndrome has been classified into 4 main phenotypes. Type I Waardenburg syndrome (WS1 ) is characterized by pigmentary abnormalities of the hair, including a white forelock and premature graying; pigmentary changes of the iris, such as heterochromia iridis and brilliant blue eyes; congenital sensorineural hearing loss; and 'dystopia canthorum.' WS type II (WS2) is distinguished from type I by the absence of dystopia canthorum. WS type III has dystopia canthorum and is distinguished by the presence of upper limb abnormalities. WS type IV (WS4 ), also known as Waardenburg-Shah syndrome, has the additional feature of Hirschsprung disease (reviews by Read and Newton, 1997 and Pingault et al., 2010).

WAARDENBURG SYNDROME, TYPE 3; WS3 Is also known as klein-waardenburg syndrome|waardenburg syndrome, type iii|waardenburg syndrome with upper limb anomalies

Related symptoms:

  • Intellectual disability
  • Generalized hypotonia
  • Hearing impairment
  • Microcephaly
  • Hypertelorism


SOURCES: OMIM MENDELIAN

More info about WAARDENBURG SYNDROME, TYPE 3; WS3

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

Allan-Herndon-Dudley syndrome (AHDS) is an X-linked intellectual disability syndrome with neuromuscular involvement characterized by infantile hypotonia, muscular hypoplasia, spastic paraparesis with dystonic/athetoic movements, and severe cognitive deficiency.

ALLAN-HERNDON-DUDLEY SYNDROME Is also known as x-linked intellectual disability-hypotonia syndrome|t3 resistance|allan-herndon syndrome|triiodothyronine resistance|monocarboxylate transporter 8 deficiency|mct8 deficiency|mental retardation and muscular atrophy|mental retardation, x-linked, with hypoto

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about ALLAN-HERNDON-DUDLEY SYNDROME

Cerebrooculofacioskeletal syndrome is an autosomal recessive progressive neurodegenerative disorder characterized by microcephaly, congenital cataracts, severe mental retardation, facial dysmorphism, and arthrogryposis (summary by Jaakkola et al., 2010). Genetic Heterogeneity of Cerebrooculofacioskeletal SyndromeSee also COFS2 (OMIM ), caused by mutation in the ERCC2 gene (OMIM ); COFS3 (OMIM ), caused by mutation in the ERCC5 gene (OMIM ); and COFS4 (OMIM ), caused by mutation in the ERCC1 gene (OMIM ).

CEREBROOCULOFACIOSKELETAL SYNDROME 1; COFS1 Is also known as cofs syndrome|cofs|pena-shokeir syndrome, type ii

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about CEREBROOCULOFACIOSKELETAL SYNDROME 1; COFS1

Fukuyama type muscular dystrophy (FCMD) is a congenital progressive muscular dystrophy characterized by brain malformation (cobblestone lissencephaly), dystrophic changes in skeletal muscle, severe intellectual deficit, epilepsy and motor impairment.

CONGENITAL MUSCULAR DYSTROPHY, FUKUYAMA TYPE Is also known as walker-warburg syndrome or muscle-eye-brain disease, fktn-related|fukuyama congenital muscular dystrophy|fcmd

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about CONGENITAL MUSCULAR DYSTROPHY, FUKUYAMA TYPE

Van den Ende-Gupta syndrome is a very rare syndrome characterized by blepharophimosis, arachnodactyly, joint contractures, and characteristic dysmorphic features.

VAN DEN ENDE-GUPTA SYNDROME Is also known as marden-walker-like syndrome|vdegs|blepharophimosis, arachnodactyly, and congenital contractures|marden-walker-like syndrome without psychomotor retardation

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about VAN DEN ENDE-GUPTA SYNDROME

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

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

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Seizures Abnormal facial shape Camptodactyly of finger Muscular hypotonia Pectus excavatum Macrotia Blepharophimosis Arthrogryposis multiplex congenita Hypertelorism Growth delay Deeply set eye Spastic paraplegia Paraplegia Joint contracture of the hand Failure to thrive Hyperreflexia Protruding ear Delayed speech and language development Syndactyly Micrognathia Autism Hearing impairment Prominent nasal bridge Knee flexion contracture Scoliosis

Rare Symptoms - Less than 30% cases

Upslanted palpebral fissure Babinski sign Cataract Absent speech Talipes equinovarus Macrocephaly Myopia High palate Elbow flexion contracture Congenital cataract Spasticity Cryptorchidism Muscular dystrophy Underdeveloped nasal alae Hallux valgus Agenesis of corpus callosum Cerebral calcification Microphthalmia Generalized muscle weakness Skeletal muscle atrophy Abnormality of the pinna Cerebellar hypoplasia Neonatal hypotonia Mandibular prognathia Respiratory distress Malar flattening Gait disturbance Motor delay Ventriculomegaly Muscle weakness Generalized amyotrophy Congenital muscular dystrophy Nystagmus Intellectual disability, progressive Interphalangeal joint contracture of finger Hypoplasia of the maxilla High, narrow palate Hypermetropia Strabismus Clinodactyly Brachydactyly Cognitive impairment Depressed nasal bridge Osteoporosis Narrow mouth Hip dislocation Intellectual disability, moderate Intellectual disability, mild Cleft palate Kyphoscoliosis Intrauterine growth retardation Sensorineural hearing impairment Atrial septal defect Long face Abnormality of the skeletal system Autistic behavior Short stature Glenoid fossa hypoplasia Hypoplasia of the corpus callosum Long ear Deep longitudinal plantar crease Second metatarsal posteriorly placed Visual impairment Optic atrophy Respiratory insufficiency Hypoplastic scapulae Choanal stenosis Single umbilical artery Hydrocephalus Osteopetrosis Sclerocornea Myopathy Abnormal eyebrow morphology Dilatation Areflexia Narrow nose Underfolded superior helices Elevated serum creatine phosphokinase Brachycephaly Glaucoma EEG abnormality Miosis Hypertonia Long metacarpals Peripheral demyelination Muscular hypotonia of the trunk Distal ulnar hypoplasia Narrow foot Long philtrum Thin vermilion border Hirsutism Neurodegeneration Gliosis Delayed myelination Prominent nose Wide intermamillary distance Neuronal loss in central nervous system Sloping forehead Abnormality of the ear Intellectual disability, profound Cutaneous photosensitivity Insulin resistance Camptodactyly of toe Ulnar bowing Kyphosis Apnea Coxa valga Long hallux Lateral clavicle hook Eclabion Rocker bottom foot Rigidity Polymicrogyria Dilated cardiomyopathy Buphthalmos Skeletal muscle hypertrophy Increased variability in muscle fiber diameter Calf muscle hypertrophy Multiple joint contractures Cortical dysplasia Spinal rigidity Transposition of the great arteries Weak cry Atrophy/Degeneration affecting the brainstem Anencephaly Ankle contracture Retinal dysplasia Myocardial fibrosis Cerebellar dysplasia Dandy-Walker malformation Type II lissencephaly Exaggerated startle response Cerebellar cyst Agyria Hypoglycosylation of alpha-dystroglycan Thoracic hemivertebrae Convex nasal ridge Cephalocele Hypoplasia of the pyramidal tract Hydronephrosis Craniosynostosis Arachnodactyly Asthma Everted lower lip vermilion Abnormal conjugate eye movement Ambiguous genitalia Dolichocephaly EMG abnormality Abnormality of the cerebral white matter Pulmonic stenosis Triangular face Retinal detachment Abnormal cerebellum morphology Brain atrophy Cerebellar vermis hypoplasia Encephalocele Pachygyria Dislocated radial head Preauricular skin tag Thin ribs Bradycardia Congenital hip dislocation Hemivertebrae Bowing of the long bones Holoprosencephaly Lissencephaly Plagiocephaly Slender long bone Aplasia/Hypoplasia of the corpus callosum Hypoplasia of the brainstem Narrow nasal bridge Mask-like facies Femoral bowing Stridor Congenital contracture Laryngomalacia Cardiac arrest Dental crowding Stahl ear Abnormality of the foot Prominent antihelix Carpal synostosis Thick vermilion border Hypopigmentation of the skin Abdominal distention Aganglionic megacolon Anorexia Scapular winging Hypopigmented skin patches Congenital sensorineural hearing impairment Albinism Premature graying of hair Cutaneous finger syndactyly Sprengel anomaly Vitiligo Blue irides Synophrys Heterochromia iridis White hair Atelectasis White forelock Bronchomalacia Narrow naris Partial albinism Dacryocystitis Poliosis Micropenis Thin upper lip vermilion Aggressive behavior Poor speech Smooth philtrum Abnormality of skin pigmentation Cleft lip Short palm Atypical absence seizures Pointed chin Narrow philtrum Ventricular septal defect Polydactyly Joint laxity Abnormality of the eye Abnormality of eye movement Horseshoe kidney Molar tooth sign on MRI Hip dysplasia Absence seizures Microretrognathia Hammertoe Knee dislocation Epicanthus Telecanthus Edema Microtia Flat face Decreased antibody level in blood Lymphedema Lymphopenia Hypoproteinemia Intestinal lymphangiectasia Erysipelas Irregular dentition Pulmonary lymphangiectasia Pericardial lymphangiectasia Wide nasal bridge Vomiting Falls Short distal phalanx of finger Increased thyroid-stimulating hormone level Drooling Tetraplegia Urinary incontinence Increased serum lactate Narrow forehead Spastic tetraplegia Open mouth Choreoathetosis Involuntary movements Leukodystrophy Clonus Narrow face Bilateral single transverse palmar creases Muscle stiffness Type I diabetes mellitus Poor head control Abnormality of movement CNS hypomyelination Athetosis Myopathic facies Aphasia Bowel incontinence Biparietal narrowing Hyperactive deep tendon reflexes Central hypotonia Hypoplasia of the zygomatic bone Macroorchidism Abnormality of the neck Delayed CNS myelination Hypoplasia of the musculature Rotary nystagmus Inability to walk Severe global developmental delay Short foot Lower limb hypertonia Tapered finger Decreased testicular size Decreased body weight Large hands Lower limb hyperreflexia Progressive spastic paraplegia Multiple cafe-au-lait spots Restlessness Facial hypotonia Distal lower limb amyotrophy Shuffling gait Furrowed tongue Diastema Alopecia areata Low frustration tolerance Joint stiffness Small forehead Talipes calcaneovarus Ataxia Ptosis Feeding difficulties Dysarthria Dystonia Hyporeflexia Proptosis Hypothyroidism Pes planus Abnormality of the nervous system Feeding difficulties in infancy Irritability Slender metacarpals


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