Abnormality of the skeletal system, and Encephalocele

Diseases related with Abnormality of the skeletal system and Encephalocele

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


Top matches:

Low match MECKEL SYNDROME, TYPE 11; MKS11


Related symptoms:

  • Polydactyly
  • Oligohydramnios
  • Encephalocele
  • Polycystic kidney dysplasia
  • Occipital encephalocele


SOURCES: OMIM MENDELIAN

More info about MECKEL SYNDROME, TYPE 11; MKS11

Low match MECKEL SYNDROME, TYPE 9; MKS9


Meckel syndrome is a severe autosomal recessive ciliopathy classically defined by the triad of encephalocele, polydactyly, and renal and biliary ductal dysplasia (summary by Hopp et al., 2011).For a general phenotypic description and a discussion of genetic heterogeneity of Meckel syndrome, see MKS1 (OMIM ).

Related symptoms:

  • Talipes equinovarus
  • Polydactyly
  • Renal cyst
  • Limb undergrowth
  • Ambiguous genitalia


SOURCES: OMIM MENDELIAN

More info about MECKEL SYNDROME, TYPE 9; MKS9

Low match LETHAL OCCIPITAL ENCEPHALOCELE-SKELETAL DYSPLASIA SYNDROME


Lethal occipital encephalocele-skeletal dysplasia syndrome is a rare, genetic, bone development disorder characterized by occipital and parietal bone hypoplasia leading to occipital encephalocele, calvarial mineralization defects, craniosynostosis, radiohumeral fusions, oligodactyly and other skeletal anomalies (arachnodactyly, terminal phalangeal aplasia of the thumbs, bilateral absence of the great toes, pronounced bilateral angulation of femora, shortened limbs, advanced osseous maturation). Fetal death in utero is associated.

Related symptoms:

  • Abnormality of the skeletal system
  • Brachycephaly
  • Craniosynostosis
  • Arachnodactyly
  • Encephalocele


SOURCES: OMIM ORPHANET MENDELIAN

More info about LETHAL OCCIPITAL ENCEPHALOCELE-SKELETAL DYSPLASIA SYNDROME

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Other less relevant matches:

Low match CRANIOFACIAL ANOMALIES AND ANTERIOR SEGMENT DYSGENESIS SYNDROME; CAASDS


Related symptoms:

  • Hypertelorism
  • Hydrocephalus
  • Encephalocele
  • Abnormality of the outer ear
  • Abnormal electroretinogram


SOURCES: OMIM MENDELIAN

More info about CRANIOFACIAL ANOMALIES AND ANTERIOR SEGMENT DYSGENESIS SYNDROME; CAASDS

Low match ENLARGED PARIETAL FORAMINA


Enlarged parietal foramina (EPF) is a developmental defect, characterized by variable intramembranous ossification defects of the parietal bones, which is either asymptomatic, symptomatic (headaches, nausea, vomiting, intellectual disability) or associated with other pathologies.

ENLARGED PARIETAL FORAMINA Is also known as fpp|cranium bifidum occultum|fenestrae parietales symmetricae|hereditary cranium bifidum|catlin marks|pfm|parietal foramina, symmetric|cranium bifidum, hereditary|symmetric parietal foramina|foramina parietalia permagna

Related symptoms:

  • Seizures
  • Cleft palate
  • Macrocephaly
  • Headache
  • Confusion


SOURCES: OMIM ORPHANET MENDELIAN

More info about ENLARGED PARIETAL FORAMINA

Low match JOUBERT SYNDROME 16; JBTS16


Joubert syndrome-16 is an autosomal recessive developmental disorder characterized by the molar tooth sign on brain imaging, oculomotor apraxia, variable coloboma, and rare kidney involvement. The phenotype is indistinguishable from that of JBTS2 (OMIM ) (summary by Lee et al., 2012).For a phenotypic description and a discussion of genetic heterogeneity of Joubert syndrome, see {213300}.

Related symptoms:

  • Polydactyly
  • Coloboma
  • Retinal dystrophy
  • Renal cyst
  • Dandy-Walker malformation


SOURCES: OMIM MENDELIAN

More info about JOUBERT SYNDROME 16; JBTS16

Low match MECKEL SYNDROME, TYPE 3; MKS3


Meckel syndrome is an autosomal recessive pre- or perinatal lethal malformation syndrome characterized by renal cystic dysplasia and variably associated features including developmental anomalies of the central nervous system (typically occipital encephalocele), hepatic ductal dysplasia and cysts, and postaxial polydactyly (summary by Smith et al., 2006).For a more complete phenotypic description and information on genetic heterogeneity of Meckel syndrome, see MKS1 (OMIM ).

MECKEL SYNDROME, TYPE 3; MKS3 Is also known as meckel-gruber syndrome, type 3

Related symptoms:

  • Cleft palate
  • Hydrocephalus
  • Polydactyly
  • Postaxial polydactyly
  • Renal cyst


SOURCES: OMIM ORPHANET MENDELIAN

More info about MECKEL SYNDROME, TYPE 3; MKS3

Low match MECKEL SYNDROME, TYPE 5; MKS5


Related symptoms:

  • Cleft palate
  • Microphthalmia
  • Polydactyly
  • Cleft lip
  • Abnormality of the kidney


SOURCES: MESH OMIM MENDELIAN

More info about MECKEL SYNDROME, TYPE 5; MKS5

Low match JOUBERT SYNDROME 24; JBTS24


Joubert syndrome-24 is an autosomal recessive ciliopathy characterized by delayed psychomotor development associated with cerebellar hypoplasia manifest as the molar tooth sign on brain imaging. Additional variable features include hypotonia, abnormal eye movements, and postaxial polydactyly (summary by Huppke et al., 2015).For a phenotypic description and a discussion of genetic heterogeneity of Joubert syndrome, see {213300}.

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Ataxia
  • Nystagmus
  • Spasticity


SOURCES: OMIM MENDELIAN

More info about JOUBERT SYNDROME 24; JBTS24

Low match JOUBERT SYNDROME 9; JBTS9


Related symptoms:

  • Intellectual disability
  • Seizures
  • Nystagmus
  • Abnormal facial shape
  • Cataract


SOURCES: OMIM MENDELIAN

More info about JOUBERT SYNDROME 9; JBTS9

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

Symptoms // Phenotype % cases
Polydactyly Common - Between 50% and 80% cases
Occipital encephalocele Uncommon - Between 30% and 50% cases
Renal cyst Uncommon - Between 30% and 50% cases
Cleft palate Uncommon - Between 30% and 50% cases
Molar tooth sign on MRI Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Hydrocephalus Postaxial polydactyly Postaxial hand polydactyly

Rare Symptoms - Less than 30% cases


Calvarial skull defect Retinal dystrophy Coloboma Cleft upper lip Nystagmus Hepatic fibrosis Seizures Abnormality of the eye Abnormality of eye movement Dandy-Walker malformation Bile duct proliferation Multicystic kidney dysplasia Talipes equinovarus Pachygyria Ataxia Astigmatism Intellectual disability, moderate Abnormality of the kidney Hepatosplenomegaly Bowing of the long bones Abnormality of the urinary system Rod-cone dystrophy Agenesis of corpus callosum Anencephaly Postaxial foot polydactyly Global developmental delay Generalized hypotonia Ventriculomegaly Polymicrogyria Cataract Spasticity Hyperreflexia Abnormal facial shape Intellectual disability Gait disturbance Absent speech Cerebellar hypoplasia Agenesis of cerebellar vermis Cleft lip Abnormality of digit Mutism Talipes Dysmetria Hypermetropia Apraxia Microphthalmia Humeroradial synostosis Oligodactyly Limited elbow extension Arachnodactyly Craniosynostosis Brachycephaly Aplasia/hypoplasia of the extremities Hypertelorism Abnormality of the posterior cranial fossa Bilateral talipes equinovarus Renal dysplasia Ambiguous genitalia Limb undergrowth Polycystic kidney dysplasia Multiple skeletal anomalies Abnormality of the outer ear Cystic renal dysplasia Spina bifida occulta Nephronophthisis Oculomotor apraxia Oligohydramnios Symmetrical, oval parietal bone defects Parietal foramina Aplasia cutis congenita of scalp Spina bifida Abnormal electroretinogram Confusion Headache Macrocephaly Abnormal corneal endothelium morphology Anterior encephalocele Posterior fossa cyst Anterior segment developmental abnormality Cerebellar vermis hypoplasia



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