Cognitive impairment, and Syndactyly

Diseases related with Cognitive impairment and Syndactyly

In the following list you will find some of the most common rare diseases related to Cognitive impairment and Syndactyly that can help you solving undiagnosed cases.


Top matches:

Low match BARDET-BIEDL SYNDROME 4; BBS4


BBS4 is a rare multisystemic disorder characterized primarily by retinal dystrophy, obesity, polydactyly, and renal dysfunction that accounts for less than 3% of BBS (Katsanis et al., 2002). Anosmia has been described in patients with BBS4 (Iannaccone et al., 2005), as well as polydactyly confined to the hands (Carmi et al., 1995).For a general phenotypic description and a discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Cryptorchidism
  • Cognitive impairment
  • Brachydactyly
  • Blindness


SOURCES: OMIM MENDELIAN

More info about BARDET-BIEDL SYNDROME 4; BBS4

Low match BENIGN FAMILIAL NEONATAL EPILEPSY


Benign familial neonatal epilepsy (BFNE) is a rare genetic epilepsy syndrome characterized by the occurrence of afebrile seizures in otherwise healthy newborns with onset in the first few days of life.

BENIGN FAMILIAL NEONATAL EPILEPSY Is also known as bfns|benign familial neonatal convulsions|benign familial neonatal seizures

Related symptoms:

  • Seizures
  • Cognitive impairment
  • Hypertonia


SOURCES: ORPHANET MENDELIAN

More info about BENIGN FAMILIAL NEONATAL EPILEPSY

Low match MENTAL RETARDATION, AUTOSOMAL RECESSIVE 44; MRT44


Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Cleft palate
  • Cognitive impairment


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL RECESSIVE 44; MRT44

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Other less relevant matches:

Low match JOUBERT SYNDROME 17; JBTS17


Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Ataxia
  • Cognitive impairment
  • Syndactyly


SOURCES: OMIM MENDELIAN

More info about JOUBERT SYNDROME 17; JBTS17

Low match BARDET-BIEDL SYNDROME 5; BBS5


BBS5 is a ciliopathy associated with severe and early-onset retinal dystrophy, postaxial polydactyly, obesity, renal dysfunction, hypogonadism, and learning difficulties (summary by Scheidecker et al., 2015). Patients described by Young et al. (1999) and Moore et al. (2005) with mutations in the BBS5 gene did not have polydactyly. The contribution of BBS5 mutations to all cases of BBS has been estimated at 2% (Li et al., 2004) and 0.40% (Zaghloul and Katsanis, 2009).For a general phenotypic description and a discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 (OMIM ).

Related symptoms:

  • Cognitive impairment
  • Visual impairment
  • Brachydactyly
  • Syndactyly
  • Obesity


SOURCES: OMIM MENDELIAN

More info about BARDET-BIEDL SYNDROME 5; BBS5

Low match ECTODERMAL DYSPLASIA-SYNDACTYLY SYNDROME


Ectodermal dysplasia-syndactyly syndrome is a rare, genetic ectodermal dysplasia syndrome characterized by sparse to absent scalp hair, eyebrows, and eyelashes (with pili torti when present), widely spaced, conical-shaped teeth with peg-shaped, conical crowns and enamel hypoplasia and palmoplantar hyperkeratosis, associated with partial cutaneous syndactyly in hands and feet.

ECTODERMAL DYSPLASIA-SYNDACTYLY SYNDROME Is also known as edss|edss1

Related symptoms:

  • Cognitive impairment
  • Syndactyly
  • Alopecia
  • Hyperhidrosis
  • Hyperkeratosis


SOURCES: ORPHANET OMIM MENDELIAN

More info about ECTODERMAL DYSPLASIA-SYNDACTYLY SYNDROME

Low match PROGRESSIVE MYOCLONIC EPILEPSY TYPE 6


A rare, genetic, neurological disorder characterized by early-onset, progressive ataxia associated with myoclonic seizures (frequently associated with other seizure types such as generalized tonic-clonic, absence and drop attacks), scoliosis of variable severity, areflexia, elevated creatine kinase serum levels, and relative preservation of cognitive function until late in the disease course.

PROGRESSIVE MYOCLONIC EPILEPSY TYPE 6 Is also known as north sea progressive myoclonus epilepsy|pme type 6|gosr2-related progressive myoclonus ataxia|epm6|progressive myoclonus epilepsy type 6

Related symptoms:

  • Seizures
  • Scoliosis
  • Ataxia
  • Peripheral neuropathy
  • Dysarthria


SOURCES: OMIM ORPHANET MENDELIAN

More info about PROGRESSIVE MYOCLONIC EPILEPSY TYPE 6

Low match ISOLATED CLOVERLEAF SKULL SYNDROME


Isolated cloverleaf skull syndrome is a form of craniosynostosis involving multiple sutures (coronal, lambdoidal, sagittal and metopic ) characterized by a trilobular skull of varying severity (frontal towering and bossing, temporal bulging and a flat posterior skull), dysmorphic features (downslanting palpebral fissures, midface hypoplasia, and extreme proptosis) and that is complicated by hydrocephalus, cerebral venous hypertension, developmental delay/intellectual disability and hind brain herniation.

ISOLATED CLOVERLEAF SKULL SYNDROME Is also known as kleeblattschadel|cloverleaf skull

Related symptoms:

  • Cognitive impairment
  • Hydrocephalus
  • Malar flattening
  • Midface retrusion
  • Proptosis


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about ISOLATED CLOVERLEAF SKULL SYNDROME

Low match POPLITEAL PTERYGIUM SYNDROME; PPS


POPLITEAL PTERYGIUM SYNDROME; PPS Is also known as cleft lip/palate, paramedian mucous cysts of the lower lip, popliteal pterygium, digital and genital anomalies|faciogenitopopliteal syndrome

Related symptoms:

  • Cleft palate
  • Cryptorchidism
  • Flexion contracture
  • Abnormality of the skeletal system
  • Talipes equinovarus


SOURCES: OMIM MENDELIAN

More info about POPLITEAL PTERYGIUM SYNDROME; PPS

Low match CHARCOT-MARIE-TOOTH DISEASE TYPE 4B3


Charcot-Marie-Tooth disease type 4B3 (CMT4B3) is a subtype of Charcot-Marie-Tooth type 4 characterized by a childhood onset of slowly progressing, demyelinating sensorimotor neuropathy, focally folded myelin sheaths in nerve biopsy, reduced nerve conduction velocities (less than 38 m/s), and the typical CMT phenotype (i.e. distal muscle weakness and atrophy, and sensory loss).

CHARCOT-MARIE-TOOTH DISEASE TYPE 4B3 Is also known as charcot-marie-tooth disease with focally folded myelin|cmt4b3

Related symptoms:

  • Intellectual disability
  • Microcephaly
  • Scoliosis
  • Ataxia
  • Strabismus


SOURCES: OMIM ORPHANET MENDELIAN

More info about CHARCOT-MARIE-TOOTH DISEASE TYPE 4B3

Top 5 symptoms//phenotypes associated to Cognitive impairment and Syndactyly

Symptoms // Phenotype % cases
Intellectual disability Uncommon - Between 30% and 50% cases
Ataxia Uncommon - Between 30% and 50% cases
Seizures Uncommon - Between 30% and 50% cases
Polydactyly Uncommon - Between 30% and 50% cases
Retinal dystrophy Rare - less than 30% cases
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Other less frequent symptoms

Patients with Cognitive impairment and Syndactyly. may also develop some of the following symptoms:

Rare Symptoms - Less than 30% cases


Scoliosis Cryptorchidism Cleft palate Global developmental delay Dysarthria External genital hypoplasia Postaxial polydactyly Areflexia Pes planus Cutaneous finger syndactyly Hypogonadism Rod-cone dystrophy Obesity Gait ataxia Brachydactyly Bifid uvula Amniotic constriction ring Recurrent corneal erosions Abnormal form of the vertebral bodies Elbow ankylosis Cloverleaf skull Craniofacial dysostosis Flexion contracture Abnormality of the skeletal system Talipes equinovarus Dementia Cleft lip Convex nasal ridge Midface retrusion Limitation of joint mobility Finger syndactyly Craniosynostosis Low-set, posteriorly rotated ears Skeletal dysplasia High forehead Proptosis Cleft upper lip Malar flattening Hydrocephalus Motor deterioration Atonic seizures Absence seizures Clumsiness Toe syndactyly Bilateral cleft lip and palate Overgrowth Limb muscle weakness Strabismus Pain Gait disturbance Glaucoma Facial palsy Ophthalmoplegia Lower limb muscle weakness Pyramidal skinfold extending from the base to the top of the nails Distal sensory impairment Polyneuropathy Brain atrophy Urinary incontinence Sensory impairment Decreased nerve conduction velocity Microcephaly Intercrural pterygium Abnormality of the genital system Febrile seizures Spina bifida occulta Scrotal hypoplasia Pterygium Bifid scrotum Hypoplasia of the uterus Bilateral cleft lip Hypoplastic labia majora Absent scrotum Labial hypoplasia Ankyloblepharon Popliteal pterygium Hypoplasia of the vagina Abnormality of the scrotum Lower lip pit Fibrous syngnathia Cutaneous photosensitivity Peripheral neuropathy Progressive cerebellar ataxia Abnormally large globe Alopecia Severe vision loss Macular dystrophy Visual impairment Intermittent hyperventilation Myelomeningocele Hyperventilation Molar tooth sign on MRI Oculomotor apraxia Cerebellar vermis hypoplasia Apraxia Abnormality of eye movement Abnormality of the eye Submucous cleft hard palate Hyperkeratosis Flat occiput Thin vermilion border Long philtrum Anteverted nares Depressed nasal bridge Hypertonia Anosmia Renal cyst Retinal degeneration Nyctalopia Reduced visual acuity Clinodactyly Abnormality of the dentition Blindness Hyperhidrosis Hypotrichosis Sensory neuropathy Conical tooth Difficulty walking Myoclonus Elevated serum creatine phosphokinase Cerebellar atrophy Tremor Fever 2-3 toe cutaneous syndactyly Epidermal hyperkeratosis Absent facial hair Palmar hyperkeratosis Patchy alopecia Hypoplasia of teeth Ridged nail Pili torti Heat intolerance Palmoplantar keratoderma Aplasia/Hypoplasia of the eyebrow Absent eyebrow Hypoplastic toenails Coarse hair Widely spaced teeth Cutaneous syndactyly Sparse eyelashes Abnormality of the hair Sparse and thin eyebrow Hypoplasia of dental enamel Sparse scalp hair Small nail Epidermal acanthosis Ectodermal dysplasia Onion bulb formation



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