Autoimmunity, and Craniosynostosis

Diseases related with Autoimmunity and Craniosynostosis

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


Top matches:

Low match CRANIOSYNOSTOSIS 7; CRS7


Craniosynostosis is a primary abnormality of skull growth involving premature fusion of the cranial sutures such that the growth velocity of the skull often cannot match that of the developing brain. This produces skull deformity and, in some cases, raises intracranial pressure, which must be treated promptly to avoid permanent neurodevelopmental disability (summary by Fitzpatrick, 2013).For a discussion of genetic heterogeneity of craniosynostosis, see CRS1 (OMIM ).

CRANIOSYNOSTOSIS 7; CRS7 Is also known as crs7, digenic|craniosynostosis 7, digenic

Related symptoms:

  • Delayed speech and language development
  • Craniosynostosis


SOURCES: OMIM MENDELIAN

More info about CRANIOSYNOSTOSIS 7; CRS7

Low match PERMANENT NEONATAL DIABETES MELLITUS


Permanent neonatal diabetes mellitus (PNDM) is a monogenic form of neonatal diabetes (NDM, see this term) characterized by persistent hyperglycemia within the first 12 months of life in general, requiring continuous insulin treatment.

PERMANENT NEONATAL DIABETES MELLITUS Is also known as monogenic diabetes of infancy|pndm

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hearing impairment
  • Ataxia
  • Failure to thrive


SOURCES: ORPHANET MENDELIAN

More info about PERMANENT NEONATAL DIABETES MELLITUS

Low match TRANSIENT NEONATAL DIABETES MELLITUS


Transient neonatal diabetes mellitus (TNDM) is a genetically heterogeneous form of neonatal diabetes (NDM, see this term) characterized by hyperglycemia presenting in the neonatal period that remits during infancy but recurs in later life in most patients.

TRANSIENT NEONATAL DIABETES MELLITUS Is also known as tndm3|tndm

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Failure to thrive


SOURCES: ORPHANET OMIM MENDELIAN

More info about TRANSIENT NEONATAL DIABETES MELLITUS

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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 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 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

Low match MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY; MONA


Zankl et al. (2007) defined what they considered to be a continuous clinical spectrum involving Torg syndrome, Winchester syndrome (OMIM ), and NAO syndrome. Torg syndrome is characterized by the presence of multiple, painless, subcutaneous nodules and mild to moderate osteoporosis and osteolysis that is usually limited to the hands and feet. Radiographically, the osteolysis is accompanied by a characteristic widening of the metacarpal and metatarsal bones. Winchester syndrome presents with severe osteolysis in the hands and feet and generalized osteoporosis and bone thinning, similar to NAO, but subcutaneous nodules are characteristically absent. Various additional features including coarse face, corneal opacities, gum hypertrophy, and EKG changes have been reported. NAO syndrome, which has only been described in patients from Saudi Arabia, is generally more severe, with multiple prominent and painful subcutaneous nodules, massive osteolysis in the hands and feet, and generalized osteoporosis. Coarse face and body hirsutism are additional features.

MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY; MONA Is also known as osteolysis, hereditary multicentric|torg syndrome|al-aqeel sewairi syndrome|nodulosis-arthropathy-osteolysis syndrome|torg-winchester syndrome, formerly|nao syndrome

Related symptoms:

  • Short stature
  • Scoliosis
  • Hypertelorism
  • Micrognathia
  • Cataract


SOURCES: ORPHANET OMIM MENDELIAN

More info about MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY; MONA

Low match SYNDROMIC MULTISYSTEM AUTOIMMUNE DISEASE DUE TO ITCH DEFICIENCY


Syndromic multisystem autoimmune disease due to Itch deficiency is a rare, genetic, systemic autoimmune disease characterized by failure to thrive, global developmental delay, distictive craniofacial dysmorphism (relative macrocephaly, dolichocephaly, frontal bossing, orbital proptosis, flattened midface with a prominent occiput, low, posteriorly rotated ears, micrognatia), hepato- and/or splenomegaly, and multisystemic autoimmune disease involving the lungs, liver, gut and/or thyroid gland.

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Failure to thrive
  • Abnormal facial shape
  • Low-set ears


SOURCES: OMIM ORPHANET MENDELIAN

More info about SYNDROMIC MULTISYSTEM AUTOIMMUNE DISEASE DUE TO ITCH DEFICIENCY

Low match COMMON VARIABLE IMMUNODEFICIENCY


Common variable immunodeficiency (CVID) comprises a heterogeneous group of diseases characterized by a significant hypogammaglobulinemia of unknown cause, failure to produce specific antibodies after immunizations and susceptibility to bacterial infections, predominantly caused by encapsulated bacteria.

COMMON VARIABLE IMMUNODEFICIENCY Is also known as primary antibody deficiency|cvid|antibody deficiency due to icos defect|idiopathic immunoglobulin deficiency|primary hypogammaglobulinemia

Related symptoms:

  • Hepatomegaly
  • Diarrhea
  • Splenomegaly
  • Immunodeficiency
  • Recurrent infections


SOURCES: ORPHANET OMIM MENDELIAN

More info about COMMON VARIABLE IMMUNODEFICIENCY

Low match KRABBE DISEASE


Krabbe disease is an autosomal recessive lysosomal disorder affecting the white matter of the central and peripheral nervous systems. Most patients present within the first 6 months of life with 'infantile' or 'classic' disease manifest as extreme irritability, spasticity, and developmental delay (Wenger et al., 2000). There is severe motor and mental deterioration, leading to decerebration and death by age 2 years. Approximately 10 to 15% of patients have a later onset, commonly differentiated as late-infantile (6 months to 3 years), juvenile (3 to 8 years), and even adult-onset forms. The later-onset forms have less disease severity and slower progression. These later-onset patients can be clinically normal until weakness, vision loss and intellectual regression become evident; those with adult onset may have spastic paraparesis as the only symptom. Disease severity is variable, even within families (summary by Tappino et al., 2010).

KRABBE DISEASE Is also known as gcl|galc deficiency|galactosylceramide beta-galactosidase deficiency|globoid cell leukodystrophy|galactocerebrosidase deficiency|globoid cell leukoencephalopathy|gld

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Ataxia


SOURCES: OMIM ORPHANET MENDELIAN

More info about KRABBE DISEASE

Top 5 symptoms//phenotypes associated to Autoimmunity and Craniosynostosis

Symptoms // Phenotype % cases
Global developmental delay Common - Between 50% and 80% cases
Failure to thrive Common - Between 50% and 80% cases
Seizures Uncommon - Between 30% and 50% cases
Hearing impairment Uncommon - Between 30% and 50% cases
Intrauterine growth retardation Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Hypothyroidism Diabetes mellitus Intellectual disability Muscular hypotonia Short stature Hydrocephalus Micrognathia Behavioral abnormality Immunodeficiency Autoimmune thrombocytopenia Scoliosis Hypertelorism Splenomegaly Autoimmune antibody positivity Flexion contracture Purpura Prominent metopic ridge Abnormal facial shape Generalized hypotonia Generalized tonic-clonic seizures Low-set ears Motor delay Arthritis Abnormal heart morphology Weight loss Bulbous nose Ptosis Hyperglycemia Impaired T cell function Downturned corners of mouth Generalized myoclonic seizures Dehydration Bilateral ptosis

Rare Symptoms - Less than 30% cases


Tetany Truncus arteriosus Meningocele Delayed speech and language development Schizophrenia Hypoparathyroidism Bipolar affective disorder Posterior embryotoxon Acne Cholelithiasis Nasal speech Hypocalcemia Spina bifida Tetralogy of Fallot Specific learning disability Hemolytic anemia Short philtrum Pes cavus Clinodactyly Seborrheic dermatitis Optic atrophy Frontal bossing Gait disturbance Proptosis Arthralgia Chronic otitis media Abnormality of the thorax Asthma Anal atresia Hepatomegaly Diarrhea Abnormal intestine morphology Hypoplasia of the thymus Cataract Recurrent respiratory infections Abnormality of the ear Failure to thrive in infancy Type I diabetes mellitus Muscular hypotonia of the trunk Pneumonia Long philtrum Vomiting Peripheral neuropathy Muscle weakness Attention deficit hyperactivity disorder Brachycephaly Cleft palate Microphthalmia Inguinal hernia Patent ductus arteriosus Elevated hemoglobin A1c Obesity Thrombocytopenia Abnormality of cardiovascular system morphology Microcephaly Strabismus Recurrent infections Hypertonia Ketonuria Atrial septal defect Short neck Ventricular septal defect Glycosuria Fever Neurodevelopmental delay Cognitive impairment Coma Apraxia Posteriorly rotated ears Renal tubular dysfunction Transient neonatal diabetes mellitus Umbilical hernia Hypovolemia Ataxia Abnormality of the upper urinary tract Narrow mouth Contractures of the joints of the lower limbs Arthrogryposis multiplex congenita Telecanthus Pancreatic hypoplasia Interphalangeal joint erosions Relative macrocephaly Prominent occiput Chronic lung disease Osteolysis involving tarsal bones Thin metacarpal cortices Carpal osteolysis Metatarsal osteolysis Metacarpal osteolysis Severe generalized osteoporosis Widened metacarpal shaft Peripheral opacification of the cornea Ankylosis of feet small joints Macrocephaly CNS demyelination Thin metatarsal cortices Distal tapering of metatarsals Short chin Chronic diarrhea Sclerotic cranial sutures Abnormal lung morphology Hepatitis Finger swelling Malabsorption Dolichocephaly Camptodactyly Respiratory failure Postural tremor Delayed closure of the anterior fontanelle C1-C2 subluxation Delayed eruption of teeth Thickened skin Decreased body weight Subcutaneous nodule Split hand Hypertrichosis Interphalangeal joint contracture of finger Hypoplasia of the maxilla Small hand Knee flexion contracture Hirsutism Corneal opacity Pes planus Coarse facial features Osteopenia Kyphoscoliosis Decerebrate rigidity Unexplained fevers Gingival overgrowth Osteolysis Contractures of the large joints Generalized osteoporosis Protrusio acetabuli Broad metatarsal Camptodactyly of toe Generalized hypertrichosis Wrist flexion contracture Aplasia/Hypoplasia of the abdominal wall musculature Abnormal nerve conduction velocity Vertebral compression fractures Metaphyseal widening Antinuclear antibody positivity Ankylosis Ankle contracture Hip contracture Arthropathy Narrow nasal bridge Abnormality of the thyroid gland Hypermelanotic macule Interstitial pneumonitis Sinusitis Elevated hepatic transaminase Mental deterioration Sensory neuropathy Falls Abnormality of the cerebral white matter Protruding ear Pallor Irritability Developmental regression Ankle clonus Brain atrophy Rigidity EEG abnormality Hyperactive deep tendon reflexes Episodic fever Visual loss Abnormality of metabolism/homeostasis Dilatation Neurodegeneration Peripheral demyelination Tremor Paraparesis Hemiplegia/hemiparesis Global brain atrophy Decreased nerve conduction velocity CNS hypomyelination Opisthotonus Spastic tetraparesis Spastic paraparesis EMG abnormality Optic disc pallor Horizontal nystagmus Sensorimotor neuropathy Progressive spasticity Leukodystrophy Clonus Progressive muscle weakness Frequent falls Tetraparesis Blindness Hyperreflexia Abnormality of the liver Hemiplegia Diffuse cerebral atrophy Motor deterioration Recurrent bacterial infections Abnormality of the thumb Recurrent pneumonia Vasculitis Lymphopenia Bronchiectasis Emphysema Demyelinating peripheral neuropathy Cloverleaf skull Recurrent otitis media Otitis media Decreased antibody level in blood Lymphoma Neutropenia Lymphadenopathy Conjunctivitis Increased CSF protein Visual impairment Recurrent infection of the gastrointestinal tract Feeding difficulties Spasticity Sensorineural hearing impairment Nystagmus Posterior pharyngeal cleft Humoral immunodeficiency Autoimmune neutropenia Gastrointestinal stroma tumor Restrictive ventilatory defect B lymphocytopenia IgM deficiency Lymphoproliferative disorder Recurrent bronchitis IgG deficiency IgA deficiency Recurrent sinusitis Bronchitis Reduced visual acuity Prominent nasal bridge Osteoporosis Aplasia of the uterus Perisylvian polymicrogyria Right aortic arch Alcoholism Femoral hernia Perimembranous ventricular septal defect Interrupted aortic arch Graves disease Anterior segment developmental abnormality Retinal vascular tortuosity Juvenile rheumatoid arthritis Myelomeningocele Sclerocornea Vitiligo Autoimmune hemolytic anemia Inflammation of the large intestine Unilateral renal agenesis Duodenal stenosis Abnormality of the middle ear Rheumatoid arthritis Decreased circulating parathyroid hormone level Small for gestational age Abnormality of the nervous system Short nose Anteverted nares Type I truncus arteriosus Parathyroid agenesis Parathyroid hypoplasia Sacral meningocele Abnormality of the thymus Accommodative esotropia Esophoria Right aortic arch with mirror image branching Arteria lusoria Aplasia of the thymus Conotruncal defect Vascular tortuosity Psoriasiform dermatitis Arnold-Chiari malformation Hypsarrhythmia Maternal diabetes Hydronephrosis Retrognathia Hypoplasia of the corpus callosum High palate Anemia Neoplasm Abnormality of the pancreatic islet cells Steatorrhea Abnormality of the kidney Insulin resistance Reduced pancreatic beta cells Neonatal insulin-dependent diabetes mellitus Microalbuminuria Peripheral axonal neuropathy Retinopathy Intellectual disability, severe Cleft lip Abnormality of the pinna Bicuspid aortic valve Coarctation of aorta Exotropia Amblyopia Broad thumb Renal dysplasia Primary amenorrhea Short palpebral fissure Low posterior hairline Amenorrhea Blepharophimosis Renal agenesis Chorea Bifid uvula High, narrow palate Iris coloboma Polymicrogyria Astigmatism Microtia Confusion Progressive neurologic deterioration Kyphosis Hyperthyroidism Abnormal eyelid morphology Abnormality of the skull Multiple renal cysts Patellar dislocation Turricephaly Abnormal lung lobation Foot polydactyly Bowel incontinence Atelectasis Dysphasia Overfolded helix Hand polydactyly Polycystic kidney dysplasia Laryngomalacia Hypopigmented skin patches Abnormality of dental enamel Varicose veins Chronic obstructive pulmonary disease Choanal atresia Retinal arteriolar tortuosity Brachydactyly Occipital myelomeningocele Abnormality of the tonsils Tricuspid atresia Multiple suture craniosynostosis Abnormal aortic arch morphology Hypertensive crisis Anorectal anomaly Abnormality of the uterus Abnormal pulmonary valve morphology Arrhinencephaly Platybasia Small earlobe Abnormality of the pharynx Abnormal aortic valve morphology Abnormal thrombocyte morphology Corneal neovascularization Aganglionic megacolon Renal hypoplasia Aspiration Beta-cell dysfunction Talipes equinovarus Downslanted palpebral fissures Wide nasal bridge Epicanthus Cryptorchidism Clinodactyly of the 4th finger Thickened ears Limb joint contracture Intellectual disability, mild Mild global developmental delay Aspiration pneumonia Ketoacidosis Abnormality of the immune system Polyuria Radial deviation of finger Polydipsia Abnormality of the dentition Malar flattening Gastrointestinal hemorrhage Anxiety Intestinal malrotation Vesicoureteral reflux Long face Arachnodactyly Joint hyperflexibility Carious teeth Feeding difficulties in infancy Myalgia Depressivity Conductive hearing impairment Gastroesophageal reflux Polyhydramnios Autism Glaucoma Upslanted palpebral fissure Constipation Hypospadias Abnormal flash visual evoked potentials



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