Autoimmunity, and Dandy-Walker malformation

Diseases related with Autoimmunity and Dandy-Walker malformation

In the following list you will find some of the most common rare diseases related to Autoimmunity and Dandy-Walker malformation that can help you solving undiagnosed cases.


Top matches:

Low match CRANIOFACIAL DYSPLASIA-SHORT STATURE-ECTODERMAL ANOMALIES-INTELLECTUAL DISABILITY SYNDROME


CRANIOFACIAL DYSPLASIA-SHORT STATURE-ECTODERMAL ANOMALIES-INTELLECTUAL DISABILITY SYNDROME Is also known as developmental delay-short stature-dysmorphic features-sparse hair syndrome|loucks-innes syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hypertelorism
  • Micrognathia


SOURCES: OMIM ORPHANET MENDELIAN

More info about CRANIOFACIAL DYSPLASIA-SHORT STATURE-ECTODERMAL ANOMALIES-INTELLECTUAL DISABILITY SYNDROME

Low match TRICHOTHIODYSTROPHY 5, NONPHOTOSENSITIVE; TTD5


Related symptoms:

  • Intellectual disability
  • Short stature
  • Microcephaly
  • Growth delay
  • Intrauterine growth retardation


SOURCES: OMIM MENDELIAN

More info about TRICHOTHIODYSTROPHY 5, NONPHOTOSENSITIVE; TTD5

Low match COFFIN-SIRIS SYNDROME 5; CSS5


Coffin-Siris syndrome is a rare congenital disorder characterized by delayed psychomotor development, intellectual disability, coarse facial features, and hypoplasia of the distal phalanges, particularly the fifth digit. Other features may also be observed, including congenital heart defects, hypoplasia of the corpus callosum, and poor overall growth with short stature and microcephaly (summary by Wieczorek et al., 2013). Patients with SMARCE1 mutations have a wide spectrum of manifestations, including severe to moderate intellectual disability and heart defects (summary by Kosho et al., 2014).For a general phenotypic description and a discussion of genetic heterogeneity of Coffin-Siris syndrome, see CSS1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Microcephaly


SOURCES: OMIM MENDELIAN

More info about COFFIN-SIRIS SYNDROME 5; CSS5

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Other less relevant matches:

Low match PONTOCEREBELLAR HYPOPLASIA, TYPE 11; PCH11


PCH11 is an autosomal recessive neurodevelopmental disorder characterized by severely delayed psychomotor development with intellectual disability and poor speech, microcephaly, dysmorphic features, and pontocerebellar hypoplasia on brain imaging. Additional features are more variable (summary by Marin-Valencia et al., 2017).For a general phenotypic description and a discussion of genetic heterogeneity of PCH, see PCH1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly


SOURCES: OMIM MENDELIAN

More info about PONTOCEREBELLAR HYPOPLASIA, TYPE 11; PCH11

Low match HEREDITARY COMBINED DEFICIENCY OF VITAMIN K-DEPENDENT CLOTTING FACTORS


Combined vitamin K-dependent clotting factors deficiency (VKCFD) is a congenital bleeding disorder resulting from variably decreased levels of coagulation factors II, VII, IX and X, as well as natural anticoagulants protein C, protein S and protein Z.

HEREDITARY COMBINED DEFICIENCY OF VITAMIN K-DEPENDENT CLOTTING FACTORS Is also known as glutamic acid, deficient gamma-carboxylation of|familial multiple coagulation factor deficiency iii|vitamin k-dependent coagulation defect|fmfd iii|hereditary combined deficiency of factors ii, vii, ix and x|multiple coagulation factor deficiency iii|mcfd

Related symptoms:

  • Cataract
  • Hydrocephalus
  • Short nose
  • Congenital cataract
  • Malabsorption


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about HEREDITARY COMBINED DEFICIENCY OF VITAMIN K-DEPENDENT CLOTTING FACTORS

Low match NEUROCUTANEOUS MELANOCYTOSIS


Neurocutaneous melanocytosis (NCM) is a rare congenital neurological disorder characterized by abnormal aggregations of nevomelanocytes within the central nervous system (leptomeningeal melanocytosis) associated with large or giant congenital melanocytic nevi (CMN; see this term). NCM can be asymptomatic or present as variably severe and progressive neurological impairment, sometimes resulting in death.

NEUROCUTANEOUS MELANOCYTOSIS Is also known as neurocutaneous melanosis|neuromelanosis|ncm

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Ataxia


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about NEUROCUTANEOUS MELANOCYTOSIS

Low match HYDROCEPHALUS, CONGENITAL, 3, WITH BRAIN ANOMALIES; HYC3


HYDROCEPHALUS, CONGENITAL, 3, WITH BRAIN ANOMALIES; HYC3 Is also known as hydrocephalus, nonsyndromic, autosomal recessive 3, formerly

Related symptoms:

  • Abnormal facial shape
  • Ventriculomegaly
  • Hydrocephalus
  • Cerebellar hypoplasia
  • Polyhydramnios


SOURCES: OMIM MENDELIAN

More info about HYDROCEPHALUS, CONGENITAL, 3, WITH BRAIN ANOMALIES; HYC3

Low match JOUBERT SYNDROME 14; JBTS14


Joubert syndrome-14 is an autosomal recessive developmental disorder characterized by severe mental retardation, hypoplasia of the cerebellar vermis and molar tooth sign (MTS) on brain imaging, hypotonia, abnormal breathing pattern in infancy, and dysmorphic facial features. Additional findings can include renal cysts, abnormal eye movements, and postaxial polydactyly (summary by Boycott et al., 2007 and Huang et al., 2011).For a phenotypic description and a discussion of genetic heterogeneity of Joubert syndrome, see {213300}.

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Ataxia
  • Growth delay


SOURCES: OMIM MENDELIAN

More info about JOUBERT SYNDROME 14; JBTS14

Low match B4GALT1-CDG


B4GALT1-CDG is a congenital disorder of glycosylation characterised by macrocephaly due to Dandy-Walker malformation, hydrocephaly, hypotonia, myopathy and coagulation anomalies. To date, only one case has been reported. The syndrome is associated with mutations in the GALT1 gene (localised to region q13 of chromosome 9) leading to a deficiency in the Golgi apparatus enzyme beta-1,4-galactosyl transferase.

B4GALT1-CDG Is also known as carbohydrate deficient glycoprotein syndrome type iid|beta-1,4-galactosyltransferase deficiency|congenital disorder of glycosylation type 2d|cdg2d|cdg iid|congenital disorder of glycosylation type iid|cdgiid|cdg-iid|cdg syndrome type iid

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Muscular hypotonia
  • Macrocephaly


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about B4GALT1-CDG

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

Top 5 symptoms//phenotypes associated to Autoimmunity and Dandy-Walker malformation

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Hydrocephalus Uncommon - Between 30% and 50% cases
Generalized hypotonia Uncommon - Between 30% and 50% cases
Microcephaly Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Autoimmunity and Dandy-Walker malformation. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Coloboma Molar tooth sign on MRI Seizures Abnormal facial shape Cerebellar hypoplasia Short stature Ataxia

Rare Symptoms - Less than 30% cases


Polydactyly Renal cyst High forehead Wide mouth Broad-based gait Hypertension Meningocele Absent speech Short philtrum Short distal phalanx of finger Strabismus Abnormality of the nervous system Spasticity Recurrent infections Ptosis Intellectual disability, severe Hypoplasia of the corpus callosum Ventriculomegaly Retinal dystrophy Intrauterine growth retardation Intracranial hemorrhage Growth delay Cerebellar vermis hypoplasia Sparse hair Epicanthus Depressed nasal bridge Downslanted palpebral fissures Low-set ears Hypertelorism Hypoplastic toenails Encephalocele Abnormal vertebral morphology Melanoma Arnold-Chiari malformation Renal hypoplasia/aplasia Venous thrombosis Cupped ear Cranial nerve paralysis Intestinal obstruction Generalized hirsutism Cerebral hemorrhage Increased intracranial pressure Celiac disease Thickened skin Cystic hygroma Neoplasm Ectopic calcification Joint hemorrhage Chorioretinal coloboma Abnormality of the cervical spine Calcification of cartilage Congenital shortened small intestine Peripheral pulmonary artery stenosis Prolonged partial thromboplastin time Abnormality of retinal pigmentation Ecchymosis Pulmonary artery stenosis Behavioral abnormality Epiphyseal stippling EEG abnormality Mental deterioration Nevus Hemiparesis Encephalitis Numerous congenital melanocytic nevi Melanocytic nevus Morning glory anomaly Prominent nasal bridge Abnormality of eye movement Postaxial polydactyly Highly arched eyebrow Open mouth Tented upper lip vermilion Occipital encephalocele Multiple renal cysts Breathing dysregulation Muscular hypotonia Abnormality of the eye Macrocephaly Myopathy Elevated serum creatine phosphokinase Stroke Abnormality of the coagulation cascade Abnormality of coagulation Stroke-like episode Apraxia Oculomotor apraxia Irritability Deeply set eye Aplasia/Hypoplasia of the cerebellum Epistaxis Abnormality of neuronal migration Generalized hyperpigmentation Syringomyelia Arachnoid cyst Spinal cord compression Meningioma Astrocytoma Papilloma Choroid plexus papilloma Polyhydramnios Posteriorly rotated ears Brain atrophy Holoprosencephaly Preeclampsia Hydranencephaly Severe hydrocephalus Nystagmus Malar flattening Microphthalmia Pneumonia Short phalanx of finger Bulbous nose Abnormal bleeding Slow-growing hair Chronic diarrhea Progressive microcephaly Optic nerve hypoplasia Brittle hair Cutis marmorata Global brain atrophy Progeroid facial appearance Panhypopituitarism Microphallus Cutaneous photosensitivity Widely spaced primary teeth Slow-growing scalp hair Feeding difficulties Anteverted nares Atrial septal defect Abnormal heart morphology Coarse facial features Thin upper lip vermilion Abnormality of the genital system Intellectual disability, profound Thick eyebrow Hematuria Micrognathia Cognitive impairment Ventricular septal defect Abnormality of the dentition Prominent forehead Proteinuria Abnormality of the kidney Craniosynostosis Ectodermal dysplasia Decreased antibody level in blood Sparse eyelashes Trigonocephaly Sparse eyebrow Nephritis Scaphocephaly Tubulointerstitial nephritis Posterior fossa cyst Micropenis Mandibular prognathia Arachnodactyly Wide nose Bruising susceptibility Stereotypy Hypermetropia Poor speech Talipes Anal atresia Inability to walk Generalized muscle weakness Esotropia Progressive neurologic deterioration Limb ataxia Protruding ear Poor eye contact Poor coordination Impaired social interactions Happy demeanor Cataract Short nose Congenital cataract Malabsorption Attention deficit hyperactivity disorder Respiratory tract infection Small nail Thick nasal alae Thick lower lip vermilion Sparse scalp hair Long eyelashes Low anterior hairline Sandal gap Slender finger Dystrophic toenail Abnormal corpus callosum morphology Delayed speech and language development Difficulty walking Dysarthria Skeletal muscle atrophy Dysphagia Talipes equinovarus Hypertonia Hyporeflexia Agenesis of corpus callosum Recurrent respiratory infections Hyperactivity Nephronophthisis



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Microphthalmia and Pulmonary hypoplasia, related diseases and genetic alterations

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