Cleft palate, and Autoimmunity

Diseases related with Cleft palate and Autoimmunity

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


Top matches:

Low match SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA; SEDC


Spondyloepiphyseal dysplasia congenita is an autosomal dominant chondrodysplasia characterized by disproportionate short stature (short trunk), abnormal epiphyses, and flattened vertebral bodies. Skeletal features are manifested at birth and evolve with time. Other features include myopia and/or retinal degeneration with retinal detachment and cleft palate (summary by Anderson et al., 1990).

SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA; SEDC Is also known as sed congenita|spondyloepiphyseal dysplasia, congenital type

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Scoliosis


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA; SEDC

Low match CENANI-LENZ SYNDROME


Cenani-Lenz syndrome (CLS) is a congenital malformation syndrome that associates a complex syndactyly of the hands with malformations of the forearm bones and similar manifestations in the lower limbs.

CENANI-LENZ SYNDROME Is also known as cenani-lenz syndactyly|cenani syndactyly|syndactyly type 7|syndactyly, type vii|cenani syndactylism

Related symptoms:

  • Hearing impairment
  • Scoliosis
  • Hypertelorism
  • Nystagmus
  • Micrognathia


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about CENANI-LENZ SYNDROME

Low match NIJMEGEN BREAKAGE SYNDROME


Nijmegen breakage syndrome is a rare genetic disease presenting at birth with microcephaly, dysmorphic facial features, becoming more noticeable with age, growth delay, and later-onset complications such as malignancies and infections.

NIJMEGEN BREAKAGE SYNDROME Is also known as microcephaly-immunodeficiency-lymphoreticuloma syndrome|ataxia-telangiectasia variant v1|microcephaly with normal intelligence, immunodeficiency, and lymphoreticular malignancies|at-v1|berlin breakage syndrome|ataxia-telangiectasia, variant 1|seemanova sy

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about NIJMEGEN BREAKAGE SYNDROME

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Other less relevant matches:

Low match OROFACIAL CLEFT 5; OFC5


OROFACIAL CLEFT 5; OFC5 Is also known as cleft lip with or without cleft palate, nonsyndromic, 5

Related symptoms:

  • Cleft palate
  • Cleft upper lip


SOURCES: OMIM MESH MENDELIAN

More info about OROFACIAL CLEFT 5; OFC5

Low match OROFACIAL CLEFT 6, SUSCEPTIBILITY TO; OFC6


OROFACIAL CLEFT 6, SUSCEPTIBILITY TO; OFC6 Is also known as cleft lip with or without cleft palate, nonsyndromic, 6

Related symptoms:

  • Cleft palate
  • Cleft upper lip


SOURCES: OMIM MENDELIAN

More info about OROFACIAL CLEFT 6, SUSCEPTIBILITY TO; OFC6

Low match PREMATURE OVARIAN FAILURE 1; POF1


Premature ovarian failure is clearly a heterogeneous disorder. The terms 'hypergonadotropic ovarian failure' and 'hypergonadotropic ovarian dysgenesis' (see ODG1, {233300}) have been used to indicate a group of disorders in which amenorrhea associated with elevated levels of serum gonadotropins occurs long before the age of 40 years (Coulam, 1982). Cytogenetic studies of X-chromosome aberrations have suggested that it is mainly the long arm of the X chromosome that is involved in defects of ovulation (Bione et al., 1998). ReviewsRossetti et al. (2017) reviewed the genetics of primary ovarian insufficiency, noting that the significance of this disorder was increasing because of the increasing number of women desiring conception beyond 30 years of age, at which point POF prevalence is more than 1%. Genetic Heterogeneity of Premature Ovarian FailureMutations in genes identified within a region defined as POF2 (Xq13.3-q21.1) have been found to cause other forms of POF: POF2A (OMIM ) by mutation in the DIAPH2 gene (OMIM ) and POF2B (OMIM ) by mutation in the POF1B gene (OMIM ). See also POF3 (OMIM ), caused by mutation in the FOXL2 gene (OMIM ) on chromosome 3q22; POF4 (see {300510}), caused by mutation in the BMP15 gene (OMIM ) on chromosome Xp11; POF5 (OMIM ), caused by mutation in the NOBOX gene (OMIM ) on chromosome 7q35; POF6 (OMIM ), caused by mutation in the FIGLA gene (OMIM ) on chromosome 2p13; POF7 (OMIM ), caused by mutation in the NR5A1 gene (OMIM ) on chromosome 9q33; POF8 (OMIM ), caused by mutation in the STAG3 gene (OMIM ) on chromosome 7q22; POF9 (OMIM ), caused by mutation in the HFM1 gene (OMIM ) on chromosome 1p22; POF10 (OMIM ), caused by mutation in the MCM8 gene (OMIM ) on chromosome 20p12; POF11 (OMIM ), caused by mutation in the ERCC6 gene (OMIM ) on chromosome 10q11; POF12 (OMIM ), caused by mutation in the SYCE1 gene (OMIM ) on chromosome 10q26; POF13 (OMIM ), caused by mutation in the MSH5 gene (OMIM ) on chromosome 6p21; and POF14 (OMIM ), caused by mutation in the GDF9 gene (OMIM ) on chromosome 5q31.In 100 patients with primary or secondary amenorrhea before the age of 40 years, who also exhibited elevated FSH, Bouilly et al. (2016) screened for variants in 19 POF-associated or candidate genes. The authors noted that 8 of the 19 mutation-positive patients carried a genetic defect in more than 1 gene, and that patients with 2 or more variants tended to have a younger age of onset and were more likely have primary rather than secondary amenorrhea. Bouilly et al. (2016) suggested that digenicity and possibly oligogenicity may contribute to POF, noting that this might account for the phenotypic variability and incomplete penetrance that have been observed in patients with POF.

PREMATURE OVARIAN FAILURE 1; POF1 Is also known as ovarian failure, premature|pof|primary ovarian insufficiency, fragile x-associated|pofx|hypergonadotropic ovarian failure, x-linked|premature ovarian failure, x-linked|fragile x premature ovarian failure

Related symptoms:

  • Intellectual disability
  • High palate
  • Abnormality of metabolism/homeostasis
  • Sparse hair
  • Autoimmunity


SOURCES: ORPHANET OMIM MENDELIAN

More info about PREMATURE OVARIAN FAILURE 1; POF1

Low match PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 2; PRAAS2


Proteasome-associated autoinflammatory syndrome-2 is an autosomal dominant disorder with onset in early infancy. Affected individuals develop severe inflammatory neutrophilic dermatitis, autoimmunity, and variable immunodeficiency (summary by Poli et al., 2018).For a discussion of genetic heterogeneity of PRAAS, see PRAAS1 (OMIM ).

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Brachydactyly
  • Fever


SOURCES: OMIM MENDELIAN

More info about PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 2; PRAAS2

Low match VELOCARDIOFACIAL SYNDROME


VELOCARDIOFACIAL SYNDROME Is also known as chromosome 22q11.2 deletion syndrome|shprintzen vcf syndrome|vcf syndrome|vcfs

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: OMIM MENDELIAN

More info about VELOCARDIOFACIAL SYNDROME

Low match DIGEORGE SYNDROME; DGS


DiGeorge syndrome (DGS) comprises hypocalcemia arising from parathyroid hypoplasia, thymic hypoplasia, and outflow tract defects of the heart. Disturbance of cervical neural crest migration into the derivatives of the pharyngeal arches and pouches can account for the phenotype. Most cases result from a deletion of chromosome 22q11.2 (the DiGeorge syndrome chromosome region, or DGCR). Several genes are lost including the putative transcription factor TUPLE1 which is expressed in the appropriate distribution. This deletion may present with a variety of phenotypes: Shprintzen, or velocardiofacial, syndrome (VCFS ); conotruncal anomaly face (or Takao syndrome); and isolated outflow tract defects of the heart including tetralogy of Fallot, truncus arteriosus, and interrupted aortic arch. A collective acronym CATCH22 has been proposed for these differing presentations. A small number of cases of DGS have defects in other chromosomes, notably 10p13 (see {601362}). In the mouse, a transgenic Hox A3 (Hox 1.5) knockout produces a phenotype similar to DGS as do the teratogens retinoic acid and alcohol.

DIGEORGE SYNDROME; DGS Is also known as hypoplasia of thymus and parathyroids|chromosome 22q11.2 deletion syndrome|third and fourth pharyngeal pouch syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment


SOURCES: OMIM MENDELIAN

More info about DIGEORGE SYNDROME; DGS

Low match 22Q11.2 DELETION SYNDROME


22q11.2 deletion syndrome (DS) is a chromosomal anomaly which causes a congenital malformation disorder whose common features include cardiac defects, palatal anomalies, facial dysmorphism, developmental delay and immune deficiency.

22Q11.2 DELETION SYNDROME Is also known as monosomy 22q11|digeorge sequence|sedlackova syndrome|takao syndrome|velocardiofacial syndrome|shprintzen syndrome|conotruncal anomaly face syndrome|digeorge syndrome|catch 22|cayler cardiofacial syndrome|microdeletion 22q11.2|22q11ds

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment


SOURCES: ORPHANET MENDELIAN

More info about 22Q11.2 DELETION SYNDROME

Top 5 symptoms//phenotypes associated to Cleft palate and Autoimmunity

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
Thrombocytopenia Uncommon - Between 30% and 50% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Short neck Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Cleft palate and Autoimmunity. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Immunodeficiency Hearing impairment Scoliosis Hypothyroidism Arthritis Microcephaly Retrognathia Seizures Hypertelorism Amenorrhea Cataract Abnormal facial shape Micrognathia Prominent nasal bridge Schizophrenia Hypospadias Nasal speech Cholelithiasis Short philtrum Acne Hemolytic anemia Posterior embryotoxon Autoimmune hemolytic anemia Impaired T cell function Purpura Bipolar affective disorder Hypoparathyroidism Meningocele Truncus arteriosus Attention deficit hyperactivity disorder Low-set ears Primary amenorrhea Ptosis Seborrheic dermatitis Anal atresia Obesity Hypocalcemia Behavioral abnormality Malar flattening Umbilical hernia Patent ductus arteriosus High palate Ventricular septal defect Hydrocephalus Atrial septal defect Bifid uvula Bulbous nose Renal agenesis Inguinal hernia Abnormality of cardiovascular system morphology Fever Specific learning disability Tetralogy of Fallot Muscular hypotonia Cleft upper lip Spina bifida

Rare Symptoms - Less than 30% cases


Platybasia Strabismus Sacral meningocele Right aortic arch with mirror image branching Aplasia of the thymus Arteria lusoria Mental deterioration Narrow mouth Right aortic arch Hydronephrosis Neoplasm Duodenal stenosis Hyperactivity Upslanted palpebral fissure Retinal vascular tortuosity Intrauterine growth retardation Conotruncal defect Microphthalmia Anal stenosis Perimembranous ventricular septal defect Anxiety Renal dysplasia Low posterior hairline Vesicoureteral reflux Chorea Blepharophimosis Abnormality of the pinna Conductive hearing impairment Bicuspid aortic valve Posteriorly rotated ears Cognitive impairment Anemia Delayed speech and language development Hypoplasia of the corpus callosum Recurrent infections Abnormal heart morphology Anorectal anomaly Arnold-Chiari malformation Interrupted aortic arch Premature ovarian insufficiency Graves disease Aplasia of the uterus Juvenile rheumatoid arthritis Choanal atresia Myelomeningocele Vitiligo Autoimmune thrombocytopenia Rheumatoid arthritis Combined immunodeficiency Deep philtrum Inflammation of the large intestine Hearing abnormality Abnormal eyelid morphology Unilateral renal agenesis Psoriasiform dermatitis Telecanthus Depressivity Convex nasal ridge Depressed nasal bridge Hypoplasia of the thymus High, narrow palate Glaucoma Micromelia Renal hypoplasia Hernia Hip dislocation Tetany Talipes equinovarus Downslanted palpebral fissures Abnormal form of the vertebral bodies Nystagmus Generalized hypotonia Growth delay Muscle weakness Laryngomalacia Abnormality of dental enamel Congenital cataract Multicystic kidney dysplasia Abnormal lung lobation Narrow palpebral fissure Foot polydactyly Bowel incontinence Turricephaly Holoprosencephaly Hyperthyroidism Dysphasia Craniosynostosis Chronic otitis media Overfolded helix Abnormality of the thorax Abnormality of the hand Hand polydactyly Polycystic kidney dysplasia Dysdiadochokinesis Hypopigmented skin patches Aganglionic megacolon Apathy Obsessive-compulsive behavior Gastrointestinal hemorrhage Intestinal malrotation Hypoplasia of the brainstem Hallucinations Underdeveloped nasal alae Open mouth Aggressive behavior Abnormality of the tonsils Tricuspid atresia Dementia Multiple suture craniosynostosis Abnormal aortic arch morphology Hypertensive crisis Retinal arteriolar tortuosity Abnormal pulmonary valve morphology Arrhinencephaly Small earlobe Abnormality of the pharynx Abnormal aortic valve morphology Abnormal thrombocyte morphology Patellar dislocation Corneal neovascularization Pulmonic stenosis Dysmetria Abnormality of the uterus Chronic obstructive pulmonary disease Atelectasis Varicose veins Long face Abnormality of the skull Peripheral demyelination Multiple renal cysts Psychosis Asthma Axonal loss Arachnodactyly Short palpebral fissure Abnormality of the middle ear Perisylvian polymicrogyria Alcoholism Paranoia Femoral hernia Anterior segment developmental abnormality Giant platelets Sclerocornea Velopharyngeal insufficiency Psychotic episodes Exotropia Amblyopia Broad thumb Central nervous system degeneration Mood swings Vascular ring Perineal fistula Congenital conductive hearing impairment Coarctation of aorta Iris coloboma Polymicrogyria Unilateral primary pulmonary dysgenesis Flexion contracture Hypertonia Astigmatism Generalized tonic-clonic seizures Microtia Cleft lip Abnormality of the kidney Abnormality of the thymus Vascular tortuosity Myopathic facies Splenomegaly Joint hyperflexibility Abnormality of the ear Basal ganglia calcification Submucous cleft hard palate Carious teeth Feeding difficulties in infancy Myalgia Gastroesophageal reflux Polyhydramnios Autism Constipation Long philtrum Delusions Pierre-Robin sequence Intellectual disability, mild Esophoria Echolalia Abnormality of the endocrine system Pulmonary artery atresia Abnormality of the dentition Optic atrophy Wide nasal bridge Epicanthus Cryptorchidism Failure to thrive Type I truncus arteriosus Parathyroid agenesis Parathyroid hypoplasia Decreased circulating parathyroid hormone level Accommodative esotropia Unilateral lung agenesis Sparse hair Absent speech Limited hip movement Short nose Frontal bossing Delayed calcaneal ossification Limitation of knee mobility Neonatal short-trunk short stature Sciatica Delayed pubic bone ossification Retinoschisis Cervical myelopathy Prominent forehead Flattened epiphysis Limited elbow movement Myelopathy Ovoid vertebral bodies Barrel-shaped chest Vitreoretinopathy Hypoplasia of the odontoid process Disproportionate short stature Syndactyly Proptosis Restrictive ventilatory defect Abnormal dermatoglyphics Hypoplasia of the ulna Ectropion Elbow dislocation Radioulnar synostosis Systemic lupus erythematosus Hypoplasia of the radius Abnormality of the metacarpal bones Renal hypoplasia/aplasia Narrow palate Deeply set eye Hemivertebrae Congenital hip dislocation Short thumb Abnormality of the genital system Abnormality of the ribs Hypodontia Toe syndactyly Finger syndactyly Protruding ear Progressive sensorineural hearing impairment Short thorax Absent thumb Polydactyly Narrow chest Platyspondyly Broad forehead Pectus carinatum Respiratory tract infection Hyperlordosis Apnea Skeletal dysplasia Severe short stature Paresthesia Midface retrusion Kyphosis Congestive heart failure Respiratory distress Gait disturbance Myopia Hypertension Pain Sensorineural hearing impairment Genu valgum Retinal degeneration Vestibular dysfunction Abnormality of epiphysis morphology Bowing of the legs Spondyloepiphyseal dysplasia Back pain Genu varum Growth abnormality Sleep apnea Coxa vara Rhizomelia Abnormality of the metaphysis Flat face Abnormal lung morphology Osteoarthritis Lumbar hyperlordosis High myopia Limb undergrowth Waddling gait Limitation of joint mobility Retinal detachment Pulmonary hypoplasia Mixed hearing impairment Abnormality of digit Cerebellar atrophy B lymphocytopenia Progressive vitiligo Mastoiditis Malar prominence Dysgammaglobulinemia Penoscrotal hypospadias Recurrent infection of the gastrointestinal tract T-cell lymphoma Pollakisuria Decrease in T cell count Webbed neck Abnormal hair quantity Rhabdomyosarcoma Glioma Abnormality of chromosome stability Medulloblastoma Recurrent sinopulmonary infections B-cell lymphoma Recurrent bronchitis Abnormality of metabolism/homeostasis Secondary amenorrhea Acute lymphoblastic leukemia Everted lower lip vermilion Intellectual disability, severe Lymphadenitis Periorbital edema Recurrent viral infections Episodic fever Vasculitis Subcutaneous nodule Inflammatory abnormality of the skin Scarring Fatigable weakness Pes planus Clinodactyly Edema Brachydactyly Hypergalactosemia Menstrual irregularities Increased circulating gonadotropin level Primary adrenal insufficiency Gonadal dysgenesis Acute leukemia Neuroblastoma Congenital hypothyroidism Respiratory insufficiency Small for gestational age Intellectual disability, moderate Abnormality of the nervous system Macrotia Respiratory failure Recurrent respiratory infections Pneumonia Diarrhea Skeletal muscle atrophy Neurodegeneration Ataxia Synostosis of joints Crossed fused renal ectopia Bilateral renal hypoplasia Foot oligodactyly Absent fingernail Absent toenail Synostosis of carpal bones Oligodactyly Leukemia Lymphoma Abnormality of the musculature Abnormality of the hair Freckling Long nose Non-midline cleft lip Abnormality of neuronal migration Cachexia Recurrent pneumonia Low anterior hairline Lymphopenia Sinusitis Prominent nose Cafe-au-lait spot Telangiectasia Bronchiectasis Chronic diarrhea Recurrent urinary tract infections Abnormality of the face Cutaneous photosensitivity Sloping forehead Otitis media Occipital myelomeningocele



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Frontal bossing and Ichthyosis, related diseases and genetic alterations Hyperreflexia and Intellectual disability, profound, related diseases and genetic alterations Delayed speech and language development and Febrile seizures, related diseases and genetic alterations Macrocephaly and Agenesis of corpus callosum, related diseases and genetic alterations Strabismus and Leukoencephalopathy, related diseases and genetic alterations

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