Abnormality of the skeletal system, and Confusion

Diseases related with Abnormality of the skeletal system and Confusion

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


Top matches:

Low match HYPOMATURATION-HYPOPLASTIC AMELOGENESIS IMPERFECTA WITH TAURODONTISM


Amelogenesis imperfecta is an inherited defect of dental enamel formation that shows both clinical and genetic heterogeneity. In the hypoplastic type of AI, the enamel is of normal hardness but does not develop to normal thickness. The thinness of the enamel makes the teeth appear small. Radiographically, enamel contrasts normally from dentin. The surface of the enamel can vary, showing smooth, rough, pitted, or local forms (Witkop, 1988).

HYPOMATURATION-HYPOPLASTIC AMELOGENESIS IMPERFECTA WITH TAURODONTISM Is also known as amelogenesis imperfecta, hypomaturation type, with snow-capped teeth|aih1|enamel hypoplasia, x-linked|amelogenesis imperfecta, x-linked 1|amelogenesis imperfecta type 4|amelogenesis imperfecta, hypoplastic/hypomaturation, x-linked 1

Related symptoms:

  • Abnormality of metabolism/homeostasis
  • Confusion
  • Microdontia
  • Hypoplasia of dental enamel
  • Amelogenesis imperfecta


SOURCES: OMIM ORPHANET MENDELIAN

More info about HYPOMATURATION-HYPOPLASTIC AMELOGENESIS IMPERFECTA WITH TAURODONTISM

Low match TRITANOPIA


Tritanopia is an extremely rare form of colour blindness characterised by a selective deficiency of blue vision.

TRITANOPIA Is also known as blue colorblindness|tritan colour blindness|blue colour blindness|colorblindness, tritanopic|congenital tritanopia|colorblindness, tritan|cbt

Related symptoms:

  • Optic atrophy
  • Confusion
  • Dyschromatopsia
  • Tritanomaly
  • Abnormal light-adapted electroretinogram


SOURCES: ORPHANET OMIM MENDELIAN

More info about TRITANOPIA

Low match ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED (HERPES-SPECIFIC), SUSCEPTIBILITY TO, 7; IIAE7


ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED (HERPES-SPECIFIC), SUSCEPTIBILITY TO, 7; IIAE7 Is also known as herpes simplex encephalitis, susceptibility to, 5

Related symptoms:

  • Seizures
  • Fever
  • Headache
  • Rigidity
  • Confusion


SOURCES: OMIM MENDELIAN

More info about ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED (HERPES-SPECIFIC), SUSCEPTIBILITY TO, 7; IIAE7

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Other less relevant matches:

Low match NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1B; CSNB1B


NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1B; CSNB1B Is also known as csnb, complete, autosomal recessive|night blindness, congenital stationary, complete, autosomal recessive

Related symptoms:

  • Myopia
  • Blindness
  • Rod-cone dystrophy
  • Reduced visual acuity
  • Nyctalopia


SOURCES: OMIM MENDELIAN

More info about NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1B; CSNB1B

Low match ALCOHOL DEPENDENCE


a disorder characterized by a pathological pattern of alcohol use that causes a serious impairment in social or occupational functioning.

ALCOHOL DEPENDENCE Is also known as alcoholism

Related symptoms:

  • Seizures
  • Behavioral abnormality
  • Depressivity
  • Hyperactivity
  • Abnormality of the nervous system


SOURCES: OMIM MENDELIAN

More info about ALCOHOL DEPENDENCE

Low match RHABDOID TUMOR PREDISPOSITION SYNDROME 1; RTPS1


The rhabdoid tumor predisposition syndrome is an autosomal dominant cancer syndrome predisposing to renal or extrarenal malignant rhabdoid tumors and to a variety of tumors of the central nervous system, including choroid plexus carcinoma, medulloblastoma, and central primitive neuroectodermal tumors (Sevenet et al., 1999).Rhabdoid tumors are a highly malignant group of neoplasms that usually occur in children less than 2 years of age. Malignant rhabdoid tumors (MRTs) of the kidney were first described as a sarcomatous variant of Wilms tumors (Beckwith and Palmer, 1978). Later, extrarenal rhabdoid tumor was reported in numerous locations, including the central nervous system (CNS) (Parham et al., 1994). Classification has been difficult because of considerable variation in the histologic and immunologic characteristics within and between rhabdoid tumors of the liver, soft tissues, and CNS. In the CNS, rhabdoid tumors may be pure rhabdoid tumors or a variant that has been designated atypical teratoid tumor (AT/RT). Genetic Heterogeneity of Rhaboid Tumor Predisposition SyndromeSee also RTPS2 (OMIM ), caused by germline mutation in the SMARCA4 gene (OMIM ) on chromosome 19p13.

RHABDOID TUMOR PREDISPOSITION SYNDROME 1; RTPS1 Is also known as brain tumor, posterior fossa, of infancy, familial

Related symptoms:

  • Neoplasm
  • Carcinoma
  • Confusion
  • Sarcoma
  • Neuroblastoma


SOURCES: OMIM MENDELIAN

More info about RHABDOID TUMOR PREDISPOSITION SYNDROME 1; RTPS1

Low match ACUTE FATTY LIVER OF PREGNANCY


Acute fatty liver of pregnancy is a rare but severe complication occurring in the third trimester of pregnancy or in early postpartum period bearing a risk for perinatal and maternal mortality and characterized by jaundice, rise of hepatic injuries and evolving to acute liver failure and encephalopathy.

ACUTE FATTY LIVER OF PREGNANCY Is also known as aflp

Related symptoms:

  • Pain
  • Fatigue
  • Vomiting
  • Headache
  • Jaundice


SOURCES: ORPHANET MESH MENDELIAN

More info about ACUTE FATTY LIVER OF PREGNANCY

Low match AMELOGENESIS IMPERFECTA, TYPE IV; AI4


AMELOGENESIS IMPERFECTA, TYPE IV; AI4 Is also known as aihht|amelogenesis imperfecta, hypomaturation-hypoplastic type, with taurodontism

Related symptoms:

  • Pain
  • Carious teeth
  • Confusion
  • Hypoplasia of dental enamel
  • Open bite


SOURCES: OMIM MENDELIAN

More info about AMELOGENESIS IMPERFECTA, TYPE IV; AI4

Low match BILATERAL PARASAGITTAL PARIETO-OCCIPITAL POLYMICROGYRIA


Related symptoms:

  • Seizures
  • Peripheral neuropathy
  • Ventriculomegaly
  • Aggressive behavior
  • Polymicrogyria


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about BILATERAL PARASAGITTAL PARIETO-OCCIPITAL POLYMICROGYRIA

Low match RETINITIS PIGMENTOSA 66; RP66


Related symptoms:

  • Cataract
  • Edema
  • Blindness
  • Rod-cone dystrophy
  • Reduced visual acuity


SOURCES: OMIM MENDELIAN

More info about RETINITIS PIGMENTOSA 66; RP66

Top 5 symptoms//phenotypes associated to Abnormality of the skeletal system and Confusion

Symptoms // Phenotype % cases
Seizures Uncommon - Between 30% and 50% cases
Blindness Rare - less than 30% cases
Pain Rare - less than 30% cases
Hypoplasia of dental enamel Rare - less than 30% cases
Amelogenesis imperfecta Rare - less than 30% cases
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Other less frequent symptoms

Patients with Abnormality of the skeletal system and Confusion. may also develop some of the following symptoms:

Rare Symptoms - Less than 30% cases


Nyctalopia Headache Reduced visual acuity Rod-cone dystrophy Delirium Abnormality of metabolism/homeostasis Taurodontia Curly hair Open bite Carious teeth Hepatic steatosis Acute hepatic steatosis Coma Ventriculomegaly Nausea Nausea and vomiting Jaundice Vomiting Fatigue Peripheral neuropathy Hallucinations Aggressive behavior Pallor Macular edema Posterior subcapsular cataract Central scotoma Subcapsular cataract Scotoma Constriction of peripheral visual field Optic disc pallor Edema Polymicrogyria Cataract Visual hallucinations Focal impaired awareness seizure Sensorimotor neuropathy Choroid plexus carcinoma Status epilepticus Focal-onset seizure Pineoblastoma Medulloblastoma Medulloepithelioma Encephalitis Peripheral visual field loss Congenital blindness Visual field defect Retinal degeneration Myopia Nuchal rigidity Rigidity Hemeralopia Fever Abnormal light-adapted electroretinogram Tritanomaly Dyschromatopsia Optic atrophy Anterior open bite Microdontia Congenital stationary night blindness Behavioral abnormality Chordoma Sarcoma Embryonal neoplasm Neoplasm of the central nervous system Schwannoma Astrocytoma Brain neoplasm Neuroblastoma Carcinoma Depressivity Neoplasm Personality disorder Alcoholism Bipolar affective disorder Type II diabetes mellitus Abnormality of the nervous system Hyperactivity Cystoid macular edema



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