Autoimmunity, and Cleft upper lip

Diseases related with Autoimmunity and Cleft upper lip

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


Top 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 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 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 DIABETES INSIPIDUS, NEUROHYPOPHYSEAL


Neurohypophyseal diabetes insipidus is an autosomal dominant disorder of free water conservation characterized by childhood onset of polyuria and polydipsia. Affected individuals are apparently normal at birth, but characteristically develop symptoms of vasopression deficiency during childhood (summary by Wahlstrom et al., 2004).

DIABETES INSIPIDUS, NEUROHYPOPHYSEAL Is also known as diabetes insipidus, cranial type|diabetes insipidus, primary central|cdi

Related symptoms:

  • Intellectual disability
  • Seizures
  • Growth delay
  • Hypertelorism
  • Neoplasm


SOURCES: OMIM MENDELIAN

More info about DIABETES INSIPIDUS, NEUROHYPOPHYSEAL

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 DIABETES MELLITUS, PERMANENT NEONATAL; PNDM


Neonatal diabetes mellitus (NDM), defined as insulin-requiring hyperglycemia within the first 3 months of life, is a rare entity, with an estimated incidence of 1 in 400,000 neonates (Shield, 2000). In about half of the neonates, diabetes is transient (see {601410}) and resolves at a median age of 3 months, whereas the rest have a permanent insulin-dependent form of diabetes (PNDM). In a significant number of patients with transient neonatal diabetes mellitus, type II diabetes (see {125853}) appears later in life (Arthur et al., 1997). PNDM is distinct from childhood-onset autoimmune diabetes mellitus type I (IDDM ).Massa et al. (2005) noted that the diagnostic time limit for PNDM has changed over the years, ranging from onset within 30 days of birth to 3 months of age. However, as patients with the clinical phenotype caused by mutation in the KCNJ11 gene have been identified with onset up to 6 months of age, Massa et al. (2005) suggested that the term 'permanent diabetes mellitus of infancy' (PDMI) replace PNDM as a more accurate description, and include those who present up to 6 months of age. The authors suggested that the new acronym be linked to the gene product (e.g., GCK-PDMI, KCNJ11-PDMI) to avoid confusion with patients with early-onset, autoimmune type I diabetes.Colombo et al. (2008) proposed that, because individuals with INS gene mutations may present with diabetes well beyond 6 months of age and cannot be distinguished from patients with type 1 diabetes except for the absence of type 1 diabetes autoantibodies, the term PNDM should be replaced with 'monogenic diabetes of infancy (MDI),' a broad definition including any form of diabetes, permanent or transient, with onset during the first years of life and caused by a single gene defect.

DIABETES MELLITUS, PERMANENT NEONATAL; PNDM Is also known as diabetes mellitus, permanent, of infancy|pdmi

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Failure to thrive
  • Muscle weakness


SOURCES: OMIM ORPHANET MENDELIAN

More info about DIABETES MELLITUS, PERMANENT NEONATAL; PNDM

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 BANNAYAN-RILEY-RUVALCABA SYNDROME


Bannayan-Riley-Ruvalcaba syndrome (BRRS) is a rare congenital disorder characterized by hamartomatous intestinal polyposis, lipomas, macrocephaly and genital lentiginosis.

BANNAYAN-RILEY-RUVALCABA SYNDROME Is also known as brrs|myhre-riley-smith syndrome

Related symptoms:

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


SOURCES: ORPHANET MENDELIAN

More info about BANNAYAN-RILEY-RUVALCABA SYNDROME

Top 5 symptoms//phenotypes associated to Autoimmunity and Cleft upper lip

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

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

Uncommon Symptoms - Between 30% and 50% cases


Muscle weakness Scoliosis Hypertelorism Short nose Micrognathia Neoplasm Growth delay Long philtrum Short neck Immunodeficiency Thrombocytopenia Hearing impairment Fever Ptosis Retrognathia

Rare Symptoms - Less than 30% cases


Arthritis Anteverted nares Clinodactyly Flexion contracture Low-set ears Combined immunodeficiency Autoimmune hemolytic anemia Short philtrum Malar flattening Cataract Pollakisuria Subcutaneous nodule Abnormal facial shape Broad thumb High, narrow palate Micromelia Nystagmus Generalized hypotonia Polyuria Polydipsia Dehydration Hip dislocation Wide nose Confusion Bifid uvula Diabetes mellitus Cachexia Vomiting Abnormal form of the vertebral bodies Frontal bossing Narrow palate Muscular hypotonia Renal agenesis Deep philtrum Hypothyroidism Prominent nasal bridge Hydronephrosis Hemolytic anemia Pneumonia Attention deficit hyperactivity disorder Primary amenorrhea Macrotia Telangiectasia Abnormality of the nervous system Small for gestational age Skeletal muscle atrophy Intrauterine growth retardation Amenorrhea Depressed nasal bridge Convex nasal ridge Microcephaly Lymphoma Barrel-shaped chest Vitreoretinopathy Hypoplasia of the odontoid process Ovoid vertebral bodies Progressive sensorineural hearing impairment Disproportionate short stature Limited elbow movement Restrictive ventilatory defect Short thorax Vestibular dysfunction Bowing of the legs Spondyloepiphyseal dysplasia Back pain Myelopathy Retinoschisis Flattened epiphysis Prominent forehead Abnormality of the ribs Hypodontia Toe syndactyly Congenital cataract Finger syndactyly Protruding ear Deeply set eye Proptosis Syndactyly Cervical myelopathy Downslanted palpebral fissures Delayed calcaneal ossification Limitation of knee mobility Neonatal short-trunk short stature Sciatica Delayed pubic bone ossification Growth abnormality Limited hip movement Genu varum Abnormality of the metaphysis Sleep apnea Hyperlordosis Narrow chest Platyspondyly Broad forehead Subcutaneous hemorrhage Abdominal wall muscle weakness Uterine neoplasm Pectus carinatum Respiratory tract infection Apnea Hamartomatous polyposis Skeletal dysplasia Glaucoma Polydactyly Severe short stature Hernia Midface retrusion Abnormal large intestine morphology Kyphosis Genu valgum Neoplasm of the breast Coxa vara Limb undergrowth Rhizomelia Abnormality of epiphysis morphology Angina pectoris Abnormality of the genital system Abnormal lung morphology Osteoarthritis Lumbar hyperlordosis High myopia Thyroid carcinoma Visceral angiomatosis Waddling gait Limitation of joint mobility Retinal detachment Pulmonary hypoplasia Flat face Intestinal polyposis Retinal degeneration Paresthesia Renal hypoplasia Joint hyperflexibility Short thumb Aspiration pneumonia Elevated hemoglobin A1c Thickened ears Transient neonatal diabetes mellitus Beta-cell dysfunction Pancreatic hypoplasia Limb joint contracture Autoimmune antibody positivity Mild global developmental delay Ketoacidosis Brachydactyly Aortic aneurysm Cutis marmorata Multiple lipomas Multiple cafe-au-lait spots Prominent metopic ridge Hamartoma Irregular hyperpigmentation Abnormality of the immune system Clinodactyly of the 4th finger Edema Hashimoto thyroiditis Delayed gross motor development Tall stature Dolichocephaly Neurological speech impairment Lymphedema Hypoglycemia Delayed skeletal maturation Pectus excavatum Myopathy Macrocephaly Pes planus Lymphadenitis Periorbital edema Recurrent viral infections Episodic fever Vasculitis Intracranial hemorrhage Inflammatory abnormality of the skin Everted lower lip vermilion Scarring Abnormality of the ear Hyperglycemia Congenital hip dislocation Radioulnar synostosis Meningioma Abnormality of digit Absent thumb Mixed hearing impairment Hypoplasia of the ulna Ectropion Elbow dislocation Arteriovenous malformation Abnormality of the optic nerve Oligodactyly Systemic lupus erythematosus Hypoplasia of the radius Laryngomalacia Abnormality of the metacarpal bones Renal hypoplasia/aplasia Abnormal dermatoglyphics Abnormality of dental enamel Nevus Hemivertebrae Congenital hypothyroidism Synostosis of carpal bones Radial deviation of finger Lipoma Bilateral ptosis Failure to thrive in infancy Type I diabetes mellitus Aspiration Progressive neurologic deterioration Hypsarrhythmia Downturned corners of mouth Muscular hypotonia of the trunk Peripheral neuropathy Absent toenail Motor delay Failure to thrive Synostosis of joints Crossed fused renal ectopia Respiratory distress Bilateral renal hypoplasia Capillary hemangioma Foot oligodactyly Absent fingernail Congestive heart failure Irritability Talipes equinovarus Malar prominence Ventricular septal defect Delayed speech and language development High palate Anemia Cognitive impairment Strabismus Progressive vitiligo Mastoiditis Dysgammaglobulinemia Hydrocephalus Penoscrotal hypospadias Anorectal anomaly Recurrent infection of the gastrointestinal tract T-cell lymphoma B lymphocytopenia Decrease in T cell count Abnormal hair quantity Rhabdomyosarcoma Hypoplasia of the corpus callosum Atrial septal defect Abnormality of chromosome stability Umbilical hernia Generalized tonic-clonic seizures Microtia Blepharophimosis Craniosynostosis Abnormality of the pinna Abnormality of the kidney Cleft lip Telecanthus Narrow mouth Hypertonia Posteriorly rotated ears Inguinal hernia Abnormal heart morphology Patent ductus arteriosus Obesity Abnormality of cardiovascular system morphology Recurrent infections Microphthalmia Behavioral abnormality Glioma Medulloblastoma Bulbous nose Leukemia Abnormality of the face Choanal atresia Cutaneous photosensitivity Sloping forehead Otitis media Prominent nose Neurodegeneration Anal atresia Mental deterioration Chronic diarrhea Intellectual disability, moderate Respiratory failure Hyperactivity Upslanted palpebral fissure Recurrent respiratory infections Hypospadias Diarrhea Respiratory insufficiency Ataxia Recurrent urinary tract infections Bronchiectasis Recurrent sinopulmonary infections Abnormality of the musculature B-cell lymphoma Recurrent bronchitis Abnormal eyelid morphology Acute leukemia Hearing abnormality Acute lymphoblastic leukemia Anal stenosis Neuroblastoma Freckling Cafe-au-lait spot Long nose Non-midline cleft lip Abnormality of neuronal migration Premature ovarian insufficiency Recurrent pneumonia Low anterior hairline Lymphopenia Abnormality of the hair Sinusitis Astigmatism Polymicrogyria Gait disturbance Sacral meningocele Osteoporosis Constipation Abnormality of metabolism/homeostasis Fatigue Type I truncus arteriosus Parathyroid agenesis Parathyroid hypoplasia Decreased circulating parathyroid hormone level Accommodative esotropia Osteopenia Esophoria Right aortic arch with mirror image branching Arteria lusoria Aplasia of the thymus Conotruncal defect Vascular tortuosity Abnormality of the thymus Abnormality of the middle ear Retinal vascular tortuosity Weight loss Lethargy Perisylvian polymicrogyria Central diabetes insipidus Myopia Hypertension Pain Sensorineural hearing impairment Germinoma Abnormality of the anterior pituitary Hypertonic dehydration Nocturia Histiocytosis Dry skin Enuresis Orthostatic hypotension Diabetes insipidus Hypotension Growth hormone deficiency Syncope Gliosis Coma Vertigo Duodenal stenosis Impaired T cell function Iris coloboma Hypocalcemia Psoriasiform dermatitis Rheumatoid arthritis Cholelithiasis Nasal speech Arnold-Chiari malformation Schizophrenia Bicuspid aortic valve Purpura Spina bifida Acne Exotropia Amblyopia Renal dysplasia Short palpebral fissure Low posterior hairline Coarctation of aorta Tetralogy of Fallot Specific learning disability Chorea Unilateral renal agenesis Inflammation of the large intestine Right aortic arch Seborrheic dermatitis Alcoholism Femoral hernia Perimembranous ventricular septal defect Interrupted aortic arch Graves disease Aplasia of the uterus Hypoplasia of the thymus Anterior segment developmental abnormality Juvenile rheumatoid arthritis Autoimmune thrombocytopenia Tetany Myelomeningocele Truncus arteriosus Sclerocornea Meningocele Hypoparathyroidism Vitiligo Bipolar affective disorder Posterior embryotoxon Neoplasm of the adrenal cortex



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