Cognitive impairment, and Postaxial polydactyly

Diseases related with Cognitive impairment and Postaxial polydactyly

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


Top 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 BARDET-BIEDL SYNDROME 2; BBS2


BBS2 is an autosomal recessive ciliopathy characterized by retinal degeneration, polydactyly, renal disease, hypogonadism, obesity, dysmorphic features, and variable degrees of cognitive impairment (Innes et al., 2010). Mutation in the BBS2 gene is the third most frequent cause of BBS, accounting for approximately 8% of cases (Zaghloul and Katsanis, 2009).For a general phenotypic description and a discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Cognitive impairment
  • Cardiomyopathy
  • Atrial septal defect


SOURCES: OMIM MENDELIAN

More info about BARDET-BIEDL SYNDROME 2; BBS2

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Other less relevant matches:

Low match BARDET-BIEDL SYNDROME 21; BBS21


BBS21 is an autosomal recessive ciliopathy characterized by obesity, postaxial polydactyly, retinal degeneration, and mild cognitive impairment (Heon et al., 2016; Khan et al., 2016).For a general phenotypic description and a discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 (OMIM ).

Related symptoms:

  • Cognitive impairment
  • Delayed speech and language development
  • Myopia
  • Blindness
  • Abnormality of the dentition


SOURCES: OMIM MENDELIAN

More info about BARDET-BIEDL SYNDROME 21; BBS21

Low match BARDET-BIEDL SYNDROME 8; BBS8


BBS8 is an autosomal recessive disorder characterized by retinitis pigmentosa, obesity, postaxial polydactyly, hypogonadism, and developmental delay (Ansley et al., 2003).For a general phenotypic description and a discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hearing impairment
  • Cognitive impairment
  • Obesity


SOURCES: OMIM MENDELIAN

More info about BARDET-BIEDL SYNDROME 8; BBS8

Low match BARDET-BIEDL SYNDROME 17; BBS17


BBS17 is an autosomal recessive ciliopathy characterized by retinitis pigmentosa, cognitive impairment, obesity, renal dysfunction, and hypogenitalism. Polydactyly, most often postaxial, is also a primary feature of BBS; in BBS17 mesoaxial polydactyly, with fused or Y-shaped metacarpals, is a distinct manifestation (Deffert et al., 2007; Schaefer et al., 2014).For a general phenotypic description and a discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 (OMIM ).

Related symptoms:

  • Global developmental delay
  • Cognitive impairment
  • Brachydactyly
  • Renal insufficiency
  • Obesity


SOURCES: OMIM MENDELIAN

More info about BARDET-BIEDL SYNDROME 17; BBS17

Low match AUTOSOMAL DOMINANT SPASTIC PARAPLEGIA TYPE 3


Autosomal dominant spastic paraplegia type 3 is a rare, pure or complex subtype of hereditary spastic paraplegia, with highly variable phenotype, typically characterized by childhood-onset of minimally progressive, bilateral, mainly symmetric lower limb spasticity and weakness, associated with pes cavus, diminished vibration sense, sphincter disturbances and/or urinary bladder hyperactivity. Additional associated manifestations may include scoliosis, mild intellectual disability, optic atrophy, axonal motor neuropathy and/or distal amyotrophy.

AUTOSOMAL DOMINANT SPASTIC PARAPLEGIA TYPE 3 Is also known as strÜmpell disease

Related symptoms:

  • Global developmental delay
  • Ataxia
  • Growth delay
  • Cataract
  • Cognitive impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL DOMINANT SPASTIC PARAPLEGIA TYPE 3

Low match ISOLATED KLIPPEL-FEIL SYNDROME


Klippel-Feil Syndrome is characterised by improper segmentation of cervical segments resulting in congenitally fused cervical vertebrae.

ISOLATED KLIPPEL-FEIL SYNDROME Is also known as congenital cervical vertebral fusion|klippel-feil sequence|congenital fused cervical segments|klippel-feil malformation|cervical vertebral fusion, autosomal recessive|kfs, autosomal recessive

Related symptoms:

  • Hearing impairment
  • Scoliosis
  • Hypertelorism
  • Sensorineural hearing impairment
  • Cleft palate


SOURCES: OMIM ORPHANET MENDELIAN

More info about ISOLATED KLIPPEL-FEIL SYNDROME

Low match OROFACIODIGITAL SYNDROME XVI; OFD16


OROFACIODIGITAL SYNDROME XVI; OFD16 Is also known as oral-facial-digital syndrome, type xvi|ofds xvi

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Ataxia
  • Muscular hypotonia
  • Ptosis


SOURCES: OMIM MENDELIAN

More info about OROFACIODIGITAL SYNDROME XVI; OFD16

Low match ORNITHINE TRANSCARBAMYLASE DEFICIENCY, HYPERAMMONEMIA DUE TO


Ornithine transcarbamylase deficiency is an X-linked inborn error of metabolism of the urea cycle which causes hyperammonemia. The disorder is treatable with supplemental dietary arginine and low protein diet.Urea cycle disorders are characterized by the triad of hyperammonemia, encephalopathy, and respiratory alkalosis. Five disorders involving different defects in the biosynthesis of the enzymes of the urea cycle have been described: OTC deficiency, carbamyl phosphate synthetase deficiency (OMIM ), argininosuccinate synthetase deficiency, or citrullinemia (OMIM ), argininosuccinate lyase deficiency (OMIM ), and arginase deficiency (OMIM ).

ORNITHINE TRANSCARBAMYLASE DEFICIENCY, HYPERAMMONEMIA DUE TO Is also known as ornithine carbamoyltransferase deficiency|otc deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Ataxia
  • Growth delay


SOURCES: ORPHANET OMIM MENDELIAN

More info about ORNITHINE TRANSCARBAMYLASE DEFICIENCY, HYPERAMMONEMIA DUE TO

Top 5 symptoms//phenotypes associated to Cognitive impairment and Postaxial polydactyly

Symptoms // Phenotype % cases
Polydactyly Very Common - Between 80% and 100% cases
Global developmental delay Common - Between 50% and 80% cases
Obesity Common - Between 50% and 80% cases
Rod-cone dystrophy Common - Between 50% and 80% cases
Hypogonadism Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Intellectual disability Ataxia Retinal degeneration External genital hypoplasia Cone/cone-rod dystrophy

Rare Symptoms - Less than 30% cases


Molar tooth sign on MRI Situs inversus totalis Depressed nasal bridge Abnormality of the kidney Hearing impairment Hypospadias Micropenis Syndactyly Postaxial hand polydactyly Motor delay Low-set ears Renal dysplasia Ventricular septal defect Brachydactyly Peripheral neuropathy Abnormality of cardiovascular system morphology Hydrometrocolpos Oculomotor apraxia Growth delay Macular dystrophy Retinal dystrophy Apnea Retinopathy Retrognathia Inability to walk Inguinal hernia Intestinal malrotation Hernia Ptosis Intellectual disability, severe Ventriculomegaly Abnormality of the shoulder Muscular hypotonia Ectopic anus Low posterior hairline Spina bifida Renal hypoplasia/aplasia Hemiplegia/hemiparesis Vertebral fusion Abnormality of the vertebral column Sprengel anomaly Abnormal cranial nerve morphology Fused cervical vertebrae Generalized hypotonia Short sternum Heterotopia Abnormal sacrum morphology Congenital muscular torticollis Aplasia of the ulna Cervical C2/C3 vertebral fusion Abnormal vertebral segmentation and fusion Decreased cervical spine mobility Limited neck range of motion Short palpebral fissure Edema Hamartoma Cerebral edema Gliosis Aciduria Thick lower lip vermilion Pancreatitis Hyperammonemia Acute hepatic failure Alkalosis Episodic ataxia Episodic vomiting Hepatic failure Wide nasal base Paranoia Oroticaciduria Respiratory alkalosis Hypoargininemia Protein avoidance Hyperglutaminemia Episodic ammonia intoxication Coma Confusion Teratoma Vomiting Hamartoma of tongue Sacrococcygeal teratoma Seizures Failure to thrive Spasticity Epicanthus Anteverted nares Wide intermamillary distance Headache Smooth philtrum Cerebral atrophy Encephalopathy Abnormal heart morphology Thin upper lip vermilion Carcinoma Mental deterioration Irritability Stroke Lethargy Abnormality of the ribs Hypertelorism Webbed neck Hypoplasia of the fovea Elevated hepatic transaminase Hypodontia High myopia Horseshoe kidney Constriction of peripheral visual field Chorioretinal atrophy Retinal atrophy Retinal thinning Blindness Reduced amplitude of dark-adapted bright flash electroretinogram a-wave Hyperautofluorescent macular lesion Brachycephaly Neurological speech impairment Asthma Renal insufficiency Stage 5 chronic kidney disease Abnormality of the dentition Myopia Anosmia Visual impairment Abnormality of the eye Abnormality of eye movement Apraxia Cerebellar vermis hypoplasia Hyperventilation Myelomeningocele Intermittent hyperventilation Severe vision loss Delayed speech and language development Cardiomyopathy Atrial septal defect Dilated cardiomyopathy Renal hypoplasia Bicuspid aortic valve Secundum atrial septal defect Unilateral renal hypoplasia Renal cyst Polydipsia Flat face Cleft palate Distal lower limb amyotrophy Distal lower limb muscle weakness Cystic renal dysplasia Lower limb hypertonia Hyperesthesia Scoliosis Sensorineural hearing impairment High palate Lower limb hyperreflexia Short neck Conductive hearing impairment Cleft lip Abnormality of the pinna Facial asymmetry Anal atresia Cleft upper lip Ankle clonus Urinary urgency Polyuria Cataract Foot polydactyly Postaxial foot polydactyly Undetectable electroretinogram Hyposmia Bilateral postaxial polydactyly Mesoaxial polydactyly Y-shaped metacarpals Dysarthria Toe walking Gait disturbance Babinski sign Rigidity Bradykinesia Frequent falls Lower limb spasticity Spastic gait Impaired vibratory sensation Low plasma citrulline



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Motor delay and Hypospadias, related diseases and genetic alterations Congestive heart failure and Umbilical hernia, related diseases and genetic alterations Hyperreflexia and Dolichocephaly, related diseases and genetic alterations Edema and Erythema, related diseases and genetic alterations

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