Cognitive impairment, and Abnormality of the ribs

Diseases related with Cognitive impairment and Abnormality of the ribs

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


Top matches:

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 SECKEL SYNDROME 4; SCKL4


Seckel syndrome is a rare autosomal recessive disorder characterized by severe pre- and postnatal growth retardation, severe microcephaly with mental retardation, and specific dysmorphic features (Faivre et al., 2002).For a general description and a discussion of genetic heterogeneity of Seckel syndrome, see {210600}.

Related symptoms:

  • Intellectual disability
  • Short stature
  • Microcephaly
  • Growth delay
  • Failure to thrive


SOURCES: OMIM MENDELIAN

More info about SECKEL SYNDROME 4; SCKL4

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

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Other less relevant matches:

Low match SCLEROSTEOSIS


Sclerosteosis is a very rare serious sclerosing hyperostosis syndrome characterized clinically by variable syndactyly and progressive skeletal overgrowth (particularly of the skull), resulting in distinctive facial features (mandibular overgrowth, frontal bossing, midfacial hypoplasia), cranial nerve entrapment causing facial palsy and deafness, and potentially lethal elevation of intracranial pressure.

SCLEROSTEOSIS Is also known as cortical hyperostosis-syndactyly syndrome|sost|cortical hyperostosis with syndactyly

Related symptoms:

  • Hearing impairment
  • Hypertelorism
  • Nystagmus
  • Strabismus
  • Sensorineural hearing impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about SCLEROSTEOSIS

Low match THANATOPHORIC DYSPLASIA TYPE 2


Thanatophoric dysplasia, type 2 (TD2) is a form of TD (see this term) characterized by micromelia, straight long-bones, macrocephaly, brachydactyly, shortened ribs and a clover-leaf skull (kleeblattschaedel).

THANATOPHORIC DYSPLASIA TYPE 2 Is also known as thanatophoric dwarfism type 2|cloverleaf skull-micromelic bone dysplasia syndrome|thanatophoric dysplasia with kleeblattschaedel|thanatophoric dysplasia with straight femurs and cloverleaf skull|td2|cloverleaf skull with thanatophoric dwarfism|thanatophor

Related symptoms:

  • Seizures
  • Short stature
  • Hearing impairment
  • Muscular hypotonia
  • Cognitive impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about THANATOPHORIC DYSPLASIA TYPE 2

Low match MUCOPOLYSACCHARIDOSIS, TYPE IIIA; MPS3A


The Sanfilippo syndrome, or mucopolysaccharidosis III, is an autosomal recessive lysosomal storage disease due to impaired degradation of heparan sulfate (Esposito et al., 2000). The disorder is characterized by severe central nervous system degeneration, but only mild somatic disease. Onset of clinical features usually occurs between 2 and 6 years; severe neurologic degeneration occurs in most patients between 6 and 10 years of age, and death occurs typically during the second or third decade of life. Type A has been reported (van de Kamp et al., 1981) to be the most severe, with earlier onset and rapid progression of symptoms and shorter survival. Genetic Heterogeneity of Mucopolysaccharidosis Type IIIMPS III includes 4 types, each due to the deficiency of a different enzyme: heparan N-sulfatase (type A); alpha-N-acetylglucosaminidase (type B; {252920}); acetyl CoA:alpha-glucosaminide acetyltransferase (type C; {252930}); and N-acetylglucosamine 6-sulfatase (type D; {252940}).

MUCOPOLYSACCHARIDOSIS, TYPE IIIA; MPS3A Is also known as mps iiia|sulfamidase deficiency|sanfilippo syndrome a|heparan sulfate sulfatase deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Ataxia


SOURCES: OMIM MENDELIAN

More info about MUCOPOLYSACCHARIDOSIS, TYPE IIIA; MPS3A

Low match PRUNE BELLY SYNDROME


Prune belly syndrome is a rare congenital disorder, belonging to the group of fetal lower urinary tract obstructions (LUTO), involving variable dilation of the lower urinary tract in association with partial or complete absence of the lateral and inferior abdominal wall musculature and in males bilateral non-palpable undescended testes.

PRUNE BELLY SYNDROME Is also known as abdominal muscles, absence of, with urinary tract abnormality and cryptorchidism|abdominal muscle deficiency syndrome|eagle-barret syndrome|eagle-barrett syndrome|triad syndrome|egbrs|obrinsky syndrome

Related symptoms:

  • Scoliosis
  • Failure to thrive
  • Cryptorchidism
  • Cognitive impairment
  • Ventricular septal defect


SOURCES: OMIM ORPHANET MENDELIAN

More info about PRUNE BELLY SYNDROME

Low match MUCOPOLYSACCHARIDOSIS, TYPE IIIB; MPS3B


Sanfilippo syndrome B is an autosomal recessive lysosomal storage disorder characterized by the accumulation of heparan sulfate. Clinically, patients have progressive neurodegeneration, behavioral problems, mild skeletal changes, and shortened life span. The clinical severity ranges from mild to severe (Chinen et al., 2005).For a phenotypic description and a discussion of genetic heterogeneity of Sanfilippo syndrome, or mucopolysaccharidosis III, see MPS IIIA (OMIM ).

MUCOPOLYSACCHARIDOSIS, TYPE IIIB; MPS3B Is also known as sanfilippo syndrome b|mps iiib|n-acetyl-alpha-d-glucosaminidase deficiency|naglu deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Ataxia


SOURCES: OMIM MENDELIAN

More info about MUCOPOLYSACCHARIDOSIS, TYPE IIIB; MPS3B

Low match MUCOPOLYSACCHARIDOSIS, TYPE IIIC; MPS3C


Sanfilippo syndrome comprises several forms of lysosomal storage diseases due to impaired degradation of heparan sulfate. The deficient enzyme in Sanfilippo syndrome C, or MPS IIIC, is an acetyltransferase that catalyzes the conversion of alpha-glucosaminide residues to N-acetylglucosaminide in the presence of acetyl-CoA.For a general phenotypic description and a discussion of genetic heterogeneity of Sanfilippo syndrome, see MPS IIIA (OMIM ).

MUCOPOLYSACCHARIDOSIS, TYPE IIIC; MPS3C Is also known as sanfilippo syndrome c|mps iiic|acetyl-coa:alpha-glucosaminide n-acetyltransferase deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Hypertelorism


SOURCES: OMIM MENDELIAN

More info about MUCOPOLYSACCHARIDOSIS, TYPE IIIC; MPS3C

Low match MYOTONIC DYSTROPHY 1; DM1


Myotonic dystrophy is an autosomal dominant disorder characterized mainly by myotonia, muscular dystrophy, cataracts, hypogonadism, frontal balding, and ECG changes. The genetic defect in DM1 results from an amplified trinucleotide repeat in the 3-prime untranslated region of a protein kinase gene. Disease severity varies with the number of repeats: normal individuals have 5 to 37 repeats, mildly affected persons have 50 to 150 repeats, patients with classic DM have 100 to 1,000 repeats, and those with congenital onset can have more than 2,000 repeats. The disorder shows genetic anticipation, with expansion of the repeat number dependent on the sex of the transmitting parent. Alleles of 40 to 80 repeats are usually expanded when transmitted by males, whereas only alleles longer than 80 repeats tend to expand in maternal transmissions. Repeat contraction events occur 4.2 to 6.4% of the time (Musova et al., 2009). Genetic Heterogeneity of Myotonic DystrophySee also myotonic dystrophy-2 (DM2 ), which is caused by mutation in the ZNF9 gene (OMIM ) on chromosome 3q21.

MYOTONIC DYSTROPHY 1; DM1 Is also known as dystrophia myotonica 1|dystrophia myotonica|steinert disease|dm

Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Muscle weakness
  • Muscular hypotonia


SOURCES: OMIM MENDELIAN

More info about MYOTONIC DYSTROPHY 1; DM1

Top 5 symptoms//phenotypes associated to Cognitive impairment and Abnormality of the ribs

Symptoms // Phenotype % cases
Seizures Common - Between 50% and 80% cases
Hearing impairment Common - Between 50% and 80% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Hyperactivity Uncommon - Between 30% and 50% cases
Thickened ribs Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Coarse facial features Global developmental delay Hepatomegaly Diarrhea Dense calvaria Ovoid thoracolumbar vertebrae Splenomegaly Dementia Joint stiffness Heparan sulfate excretion in urine Synophrys Depressed nasal bridge Sleep disturbance Recurrent upper respiratory tract infections Coarse hair Dysostosis multiplex Asymmetric septal hypertrophy Hirsutism Behavioral abnormality Failure to thrive Low-set ears Hypertelorism

Rare Symptoms - Less than 30% cases


Ventricular septal defect Sensorineural hearing impairment Proptosis Dysphagia Motor delay Muscular hypotonia Peripheral neuropathy Atrial septal defect Patent ductus arteriosus Polyhydramnios Decreased fetal movement Aplasia/Hypoplasia of the lungs Delayed speech and language development Ataxia Ptosis Intellectual disability, severe Scoliosis 11 pairs of ribs Cerebral cortical atrophy Progressive neurologic deterioration Limb ataxia Growth abnormality Restlessness Dilatation Frontal bossing Short stature Flat face Anal atresia Abnormality of the kidney Abnormal cranial nerve morphology Abnormality of the ureter Congenital hip dislocation Hemivertebrae Multicystic kidney dysplasia Cutis laxa Abnormality of the urinary system Bilateral cryptorchidism Hydroureter Vertebral segmentation defect Abnormal EKG Decreased fertility Abnormality of the uterus Xerostomia Recurrent urinary tract infections Volvulus Miosis Intestinal atresia Urogenital sinus anomaly Urethral stenosis Cervical ribs Abdominal wall defect Prune belly Neurofibrillary tangles Abnormality of the bladder Megacystis Urethral obstruction Telangiectasia Cardiac arrest Epistaxis First degree atrioventricular block Renal insufficiency Percussion myotonia Pectus excavatum Abnormal heart morphology Obsessive-compulsive trait Narcolepsy Excessive daytime sleepiness Constipation Recurrent respiratory infections Hydronephrosis Frontal balding Pectus carinatum Hip dislocation Heart block Ascites Abdominal distention Vesicoureteral reflux Intestinal malrotation Abnormality of the skin Decreased testicular size Tetralogy of Fallot Testicular atrophy Oligohydramnios Atrial flutter Nonimmune hydrops fetalis Facial diplegia Congenital posterior urethral valve Fetal ascites Dilatation of the bladder Insulin resistance Stroke Respiratory distress Edema Myopathy Cerebral atrophy Arrhythmia Hypogonadism Respiratory failure Neonatal hypotonia Myalgia Ventricular tachycardia Mental deterioration Feeding difficulties in infancy Muscular dystrophy Cataract Talipes Lower limb muscle weakness Intellectual disability, progressive Unsteady gait Tachycardia Sensory neuropathy Spontaneous abortion Brain atrophy Premature birth Mitral valve prolapse Atrial fibrillation Progressive muscle weakness Hydrops fetalis Skeletal muscle atrophy Pain Centrally nucleated skeletal muscle fibers Cholelithiasis Aplasia of the abdominal wall musculature Thin ribs Aplasia of the musculature Alzheimer disease Myotonia Tremor Cerebellar atrophy Aggressive behavior Dysmetria Retinal degeneration Neurodegeneration Cardiomegaly Talipes equinovarus Atrioventricular block Muscle weakness Hernia Rod-cone dystrophy Kyphoscoliosis Umbilical hernia Hepatosplenomegaly Respiratory tract infection Dolichocephaly Everted lower lip vermilion Hypertrichosis Loss of speech Motor deterioration Cellular metachromasia Generalized hypotonia Protuberant abdomen Split hand Cryptorchidism Nail dysplasia Optic atrophy Malar flattening Syndactyly Headache Midface retrusion Visual loss Cleft palate Mandibular prognathia Facial palsy Paralysis Finger syndactyly Dental malocclusion Esotropia Overgrowth High palate Tall stature Increased bone mineral density Cutaneous syndactyly Increased intracranial pressure Anosmia Abnormality of pelvic girdle bone morphology Constriction of peripheral visual field Hyperostosis Broad ribs Abnormal cortical bone morphology Abnormality of the nose Craniofacial hyperostosis Fingernail dysplasia Wide nasal bridge Strabismus Deviation of finger Hemiplegia/hemiparesis Abnormality of cardiovascular system morphology Polydactyly Conductive hearing impairment Cleft lip Abnormality of the pinna Facial asymmetry Cleft upper lip Postaxial polydactyly Webbed neck Wide intermamillary distance Low posterior hairline Spina bifida Renal hypoplasia/aplasia Vertebral fusion Nystagmus Abnormality of the vertebral column Sprengel anomaly Ectopic anus Fused cervical vertebrae Short sternum Abnormality of the shoulder 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 Diaphyseal thickening Esodeviation Hypertonia Severe failure to thrive Short femur Hypoplastic ilia Small face Cloverleaf skull Increased nuchal translucency Severe short-limb dwarfism Short sacroiliac notch Lethal short-limbed short stature Small foramen magnum Small abnormally formed scapulae Wide-cupped costochondral junctions Steep acetabular roof Pneumonia Decreased body weight Short thorax Underdeveloped nasal alae Corneal opacity Postnatal growth retardation Retrognathia High forehead Short neck Abnormality of the skeletal system Intrauterine growth retardation Thickened calvaria Visceromegaly Growth delay Central nervous system degeneration Microcephaly Occipital encephalocele Flared metaphysis Broad clavicles Severe short stature Sclerotic vertebral endplates Trigeminal neuralgia 2-3 finger syndactyly Sclerotic scapulae Curved distal phalanges of the hand Facial palsy secondary to cranial hyperostosis Cortically dense long tubular bones Brachydactyly Macrocephaly Ventriculomegaly Respiratory insufficiency Hydrocephalus Kyphosis Skeletal dysplasia Abnormality of neuronal migration Platyspondyly Narrow chest Joint hyperflexibility Micromelia Limitation of joint mobility Abnormality of the metaphysis Encephalocele Short ribs Acanthosis nigricans Holoprosencephaly Disproportionate short-limb short stature Redundant skin Metaphyseal irregularity Ring fibers



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Congestive heart failure and Pectus carinatum, related diseases and genetic alterations Epicanthus and Autistic behavior, related diseases and genetic alterations Low-set ears and Frontal bossing, related diseases and genetic alterations Ptosis and Arrhythmia, related diseases and genetic alterations

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