Intellectual disability, severe, and Tapered finger

Diseases related with Intellectual disability, severe and Tapered finger

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


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High match X-LINKED INTELLECTUAL DISABILITY, TURNER TYPE


X-linked intellectual disability, Turner type is characterised by moderate to severe intellectual deficit in boys and moderate intellectual deficit in girls. It has been described in 14 members from four generations of one family. Macrocephaly was reported and holoprosencephaly may also be present (two family members). The mode of transmission is X-linked semi-dominant.

X-LINKED INTELLECTUAL DISABILITY, TURNER TYPE Is also known as mental retardation and macrocephaly syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Spasticity
  • Flexion contracture


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about X-LINKED INTELLECTUAL DISABILITY, TURNER TYPE

High match INTELLECTUAL DISABILITY-OBESITY-BRAIN MALFORMATIONS-FACIAL DYSMORPHISM SYNDROME


Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome is a rare, syndromic intellectual disability primarily characterized by moderate to severe intellectual disability, true-to-relative microcephaly and brain abnormalities including a thin corpus callosum, cerebellar hypoplasia, cerebral white matter hypoplasia and multi-focal hyperintensity of cerebral white matter on MRI. Obesity and distinctive craniofacial dysmorphism (including brachycephaly, round face, straight eyebrows, synophrys, hypertelorism, epicanthus, wide and depressed nasal bridge, protruding ears with uplifted lobe, downslanting corners of the mouth) are additional features.

INTELLECTUAL DISABILITY-OBESITY-BRAIN MALFORMATIONS-FACIAL DYSMORPHISM SYNDROME Is also known as autosomal recessive intellectual disability due to trappc9 deficiency

Related symptoms:

  • Seizures
  • Global developmental delay
  • Microcephaly
  • Hypertelorism
  • Abnormal facial shape


SOURCES: ORPHANET MENDELIAN

More info about INTELLECTUAL DISABILITY-OBESITY-BRAIN MALFORMATIONS-FACIAL DYSMORPHISM SYNDROME

High match ALPORT SYNDROME-INTELLECTUAL DISABILITY-MIDFACE HYPOPLASIA-ELLIPTOCYTOSIS SYNDROME


Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome is characterised by the association of Alport syndrome, midface hypoplasia, intellectual deficit and elliptocytosis. It has been described in two families. The syndrome is transmitted as an X-linked trait is caused by a contiguous gene deletion in Xq22.3 involving several genes including COL4A5, FACL4 and AMMECR1.

ALPORT SYNDROME-INTELLECTUAL DISABILITY-MIDFACE HYPOPLASIA-ELLIPTOCYTOSIS SYNDROME Is also known as ats-mr|chromosome xq22.3 telomeric deletion syndrome|amme syndrome|alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis|amme complex

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Strabismus
  • Sensorineural hearing impairment
  • Abnormal facial shape


SOURCES: ORPHANET OMIM MENDELIAN

More info about ALPORT SYNDROME-INTELLECTUAL DISABILITY-MIDFACE HYPOPLASIA-ELLIPTOCYTOSIS SYNDROME

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High match CORPUS CALLOSUM AGENESIS-ABNORMAL GENITALIA SYNDROME


Corpus callosum agenesis-abnormal genitalia syndrome is a rare, genetic developmental defect during embryogenesis syndrome characterized by agenesis of the corpus callosum, mild to severe neurological manifestations (intellectual disability, developmental delay, epilepsy, dystonia), and urogenital anomalies (hypospadias, cryptorchidism, renal dysplasia, ambiguous genitalia). Additionally, skeletal anomalies (limb contractures, scoliosis), dysmorphic facial features (prominent supraorbital ridges, synophris, large eyes) and optic atrophy have been observed.

CORPUS CALLOSUM AGENESIS-ABNORMAL GENITALIA SYNDROME Is also known as proud syndrome|microcephaly-corpus callosum agenesis-abnormal genitalia syndrome|acc with abnormal genitalia|acc-abnormal genitalia syndrome|proud-levine-carpenter syndrome

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about CORPUS CALLOSUM AGENESIS-ABNORMAL GENITALIA SYNDROME

High match SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 2; SGBS2


An extremely rare and severe early-lethal form of Simpson-Golabi-Behmel syndrome. The disease is an overgrowth-multiple anomalies syndrome with characteristics of hydrops fetalis, macrocephaly, facial dysmorphism, short neck, redundant skin, skeletal defects (involving upper and lower limbs), hypoplastic nails, gastrointestinal and genitourinary anomalies, hypotonia and neurologic impairment. Severe intellectual disability, obesity and infections (pneumonia, sepsis) have been reported.

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Hypertelorism
  • Abnormal facial shape


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 2; SGBS2

High match EARLY-ONSET SEIZURES-DISTAL LIMB ANOMALIES-FACIAL DYSMORPHISM-GLOBAL DEVELOPMENTAL DELAY SYNDROME


IDDFSDA is an autosomal recessive severe multisystem disorder characterized by poor overall growth, developmental delay, early-onset seizures, intellectual disability, and dysmorphic features. There is phenotypic variability. The most severely affected patients have a neurodevelopmental disorder with microcephaly, absent speech, and inability to walk, and they require feeding tubes. Some patients have congenital heart defects or nonspecific abnormalities on brain imaging. Less severely affected individuals have mild to moderate intellectual disability with normal speech and motor development (summary by Santiago-Sim et al., 2017).

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about EARLY-ONSET SEIZURES-DISTAL LIMB ANOMALIES-FACIAL DYSMORPHISM-GLOBAL DEVELOPMENTAL DELAY SYNDROME

High match TEMPLE-BARAITSER SYNDROME


Temple-Baraitser syndrome is a rare developmental anomalies syndrome characterized by severe intellectual disability and distal hypoplasia of digits, particularly of thumbs and halluces, with nail aplasia or hypoplasia. Facial dysmorphism with a pseudo-myopathic appearance has been reported, which may include high anterior hairline or low frontal hairline with central cowlick, flat forehead, ptosis, hypertelorism, downslanting palpebral fissures, epicanthal folds, ears with thick helices, broad depressed nasal bridge with anteverted nares, short columella, long philtrum, high-arched palate, broad mouth with thick vermilion border of the upper or the lower lip and downturned corners. Marked hypotonia, seizures and global developmental delay have been reported, associated with autistic spectrum disorder manifestations in some patients.

TEMPLE-BARAITSER SYNDROME Is also known as severe intellectual disability-aplasia/hypoplasia of thumb and hallux syndrome|mental retardation, severe, and absent nails of hallux and pollex|tmbts

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about TEMPLE-BARAITSER SYNDROME

High match HYPERPHOSPHATASIA-INTELLECTUAL DISABILITY SYNDROME


Hyperphosphatasia with mental retardation syndrome-1 is an autosomal recessive disorder characterized by mental retardation, various neurologic abnormalities such as seizures and hypotonia, and hyperphosphatasia. Other features include facial dysmorphism and variable degrees of brachytelephalangy (summary by Krawitz et al., 2010). The disorder is caused by a defect in glycosylphosphatidylinositol biosynthesis; see GPIBD1 (OMIM ). Genetic Heterogeneity of Hyperphosphatasia with Mental Retardation SyndromeSee also HPMRS2 (OMIM ), caused by mutation in the PIGO gene (OMIM ) on chromosome 9p13; HPMRS3 (OMIM ), caused by mutation in the PGAP2 gene (OMIM ) on chromosome 11p15; HPMRS4 (OMIM ), caused by mutation in the PGAP3 gene (OMIM ) on chromosome 17q12; HPMRS5 (OMIM ), caused by mutation in the PIGW gene (OMIM ) on chromosome 17q12; and HPMRS6 (OMIM ), caused by mutation in the PIGY gene (OMIM ) on chromosome 4q22.Knaus et al. (2018) provided a review of the main clinical features of the different types of HPMRS, noting that some patients have a distinct pattern of facial anomalies that can be detected by computer-assisted comparison, particularly those with mutations in the PIGV and PGAP3 genes. Individuals with HPMRS have variable increased in alkaline phosphatase (AP) as well as variable decreases in GPI-linked proteins that can be detected by flow cytometry. However, there was no clear correlation between AP levels or GPI-linked protein abnormalities and degree of neurologic involvement, mutation class, or gene involved. Knaus et al. (2018) concluded that a distinction between HPMRS and MCAHS (see, e.g., {614080}), which is also caused by mutation in genes involved in GPI biosynthesis, may be artificial and even inaccurate, and that all these disorders should be considered and classified under the more encompassing term of 'GPI biosynthesis defects' (GPIBD).

HYPERPHOSPHATASIA-INTELLECTUAL DISABILITY SYNDROME Is also known as mabry syndrome|glycosylphosphatidylinositol biosynthesis defect 2|gpibd2

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about HYPERPHOSPHATASIA-INTELLECTUAL DISABILITY SYNDROME

High match CDKL5-RELATED EPILEPTIC ENCEPHALOPATHY


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

High match SYNDROMIC X-LINKED INTELLECTUAL DISABILITY DUE TO JARID1C MUTATION


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

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

Symptoms // Phenotype % cases
Intellectual disability Very Common - Between 80% and 100% cases
Seizures Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Abnormal facial shape Common - Between 50% and 80% cases
Microcephaly Common - Between 50% and 80% cases
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Other less frequent symptoms

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

Common Symptoms - More than 50% cases


Generalized hypotonia

Uncommon Symptoms - Between 30% and 50% cases


Muscular hypotonia

Common Symptoms - More than 50% cases


High palate

Uncommon Symptoms - Between 30% and 50% cases


Thin upper lip vermilion Absent speech Macrocephaly Wide nasal bridge Anteverted nares Downslanted palpebral fissures Intellectual disability, progressive Hearing impairment Hypertelorism Coarse facial features Downturned corners of mouth Short stature Broad thumb Flexion contracture Short neck Talipes equinovarus Strabismus Malar flattening Severe global developmental delay Protruding ear Thick vermilion border Cryptorchidism Depressed nasal bridge Small nail Epicanthus Inability to walk Spasticity Obesity Short distal phalanx of finger Scoliosis

Rare Symptoms - Less than 30% cases


Wide intermamillary distance Macrotia Constipation Upslanted palpebral fissure Low anterior hairline Mandibular prognathia Spastic tetraplegia Tetraplegia Cognitive impairment Overlapping toe Neonatal hypotonia Deeply set eye Inguinal hernia Motor delay Long philtrum Short palm Poor eye contact Autistic behavior Prominent nasal bridge Short nose Wide nose Wide mouth Broad forehead Micropenis Posteriorly rotated ears Clinodactyly Short foot Cerebral atrophy Highly arched eyebrow Low-set ears Cleft palate Long palpebral fissure Autism Infantile spasms Abnormally large globe Growth delay Sensorineural hearing impairment Abnormality of the pinna Generalized myoclonic seizures Myopia Synophrys Intellectual disability, mild Intellectual disability, moderate Midface retrusion Long face Hyperreflexia Intellectual disability, profound Cerebral cortical atrophy Brachycephaly Delayed speech and language development Hypoplasia of the corpus callosum Shortening of all distal phalanges of the fingers Delayed ossification of carpal bones Blindness Cerebellar atrophy Encephalopathy Microscopic hematuria Myoclonus Prominent forehead Respiratory failure Gastroesophageal reflux Kyphoscoliosis Profound global developmental delay Hypertonia Developmental regression Small hand Sleep disturbance EEG abnormality Cupped ear Thickened helices Short philtrum Pseudoepiphysis of the thumb Absent nail of hallux Hypoplastic thumbnail Ventricular septal defect Hydrocephalus Atrial septal defect Hypotelorism Hydronephrosis Abnormality of the nervous system Cleft lip Abnormality of the liver Anal atresia Anteriorly placed anus Cleft upper lip Oral cleft Broad nasal tip Sparse scalp hair Aganglionic megacolon Short toe Plagiocephaly Infantile muscular hypotonia Tented upper lip vermilion Elevated alkaline phosphatase Focal-onset seizure Delayed myelination Thick lower lip vermilion Epileptic encephalopathy Progressive spastic paraplegia Paraplegia Smooth philtrum Falls High, narrow palate Hypoplasia of the maxilla Decreased testicular size Interphalangeal joint contracture of finger Decreased body weight Large hands Lower limb hyperreflexia Multiple cafe-au-lait spots Hypermetropia Restlessness Facial hypotonia Distal lower limb amyotrophy Shuffling gait Furrowed tongue Diastema Alopecia areata Lower limb hypertonia Low frustration tolerance Small forehead Poor speech Spastic paraplegia Sloping forehead Hyperventilation Apraxia Hypsarrhythmia Flat forehead Tetraparesis Postnatal microcephaly Stereotypy Cerebral visual impairment Progressive microcephaly Spastic tetraparesis Loss of consciousness Bruxism Camptodactyly of finger Developmental stagnation Mood swings Infantile encephalopathy Multifocal seizures Thoracolumbar kyphoscoliosis EEG with generalized slow activity Micrognathia Brachydactyly Pectus excavatum Babinski sign Aggressive behavior Tented philtrum Low hanging columella Pseudoepiphyses Congenital stationary night blindness Prominent supraorbital ridges Abnormality of the hip bone Multifocal cerebral white matter abnormalities Large fleshy ears Abnormal hair pattern Limb joint contracture Broad alveolar ridges Hyperconvex nail Horizontal eyebrow Abnormality of brain morphology Malignant hyperthermia Lissencephaly Underdeveloped supraorbital ridges Congenital hypothyroidism Narrow forehead Pneumonia Round face Respiratory tract infection Dolichocephaly Single transverse palmar crease Cerebellar hypoplasia Congenital hip dislocation Renal hypoplasia/aplasia Generalized hirsutism Recurrent upper respiratory tract infections Optic atrophy Elliptocytosis Craniopharyngioma Erythrocyte cylindruria Increased number of teeth Glomerulopathy Nystagmus Nephritis Abnormality of the hair Visual impairment Abnormality of the metaphysis Hypospadias Renal insufficiency Hematuria Agenesis of corpus callosum Hyperactivity Thin vermilion border Stage 5 chronic kidney disease Proteinuria Hirsutism Patent ductus arteriosus Abnormality of the genital system Renal dysplasia Multicystic kidney dysplasia Deep philtrum Frontal upsweep of hair Open mouth Sacral dimple Flat occiput Long nose Abnormality of the fingernails Ptosis Knee flexion contracture Generalized tonic-clonic seizures Pointed chin Full cheeks Prominent nose Short thumb Holoprosencephaly Adducted thumb Myopathic facies Broad hallux Anonychia Global brain atrophy Short columella Abnormal aortic valve morphology High anterior hairline Thick nasal alae Small thenar eminence Long eyelashes Delayed gross motor development Radial deviation of finger Feeding difficulties Short finger Broad palm Hyperactive deep tendon reflexes Scaphocephaly Thickened nuchal skin fold Abnormality of the rib cage U-Shaped upper lip vermilion Facial capillary hemangioma Clinodactyly of the 5th finger Failure to thrive Intrauterine growth retardation Arachnodactyly Ventriculomegaly Absent nares Abnormal heart morphology Female infertility Macroorchidism Retrognathia Ankle contracture Abnormal cardiac septum morphology Long fingers Limited elbow extension Talipes calcaneovarus



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