Autoimmunity, and Dolichocephaly

Diseases related with Autoimmunity and Dolichocephaly

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


Top matches:

Medium 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 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

Low match COWDEN SYNDROME


Cowden syndrome (CS) is a difficult to recognize, under-diagnosed genodermatosis characterized by the presence of multiple hamartomas in various tissues and an increased risk for malignancies of the breast, thyroid, endometrium, kidney and colorectum. When CS is accompanied by germline PTEN mutations, it belongs to the PTEN hamartoma tumor syndrome (PHTS; see this term) group.

COWDEN SYNDROME Is also known as bzs|cowden disease|bbrs|macrocephaly, multiple lipomas, and hemangiomata|pten hamartoma tumor syndrome with granular cell tumor|bannayan-zonana syndrome|macrocephaly, pseudopapilledema, and multiple hemangiomata|cs|cd|mham|pten hamartoma tumor syndrome|ri

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about COWDEN SYNDROME

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Other less relevant matches:

Low match KABUKI SYNDROME 1; KABUK1


Kabuki syndrome is a congenital mental retardation syndrome with additional features, including postnatal dwarfism, a peculiar facies characterized by long palpebral fissures with eversion of the lateral third of the lower eyelids (reminiscent of the make-up of actors of Kabuki, a Japanese traditional theatrical form), a broad and depressed nasal tip, large prominent earlobes, a cleft or high-arched palate, scoliosis, short fifth finger, persistence of fingerpads, radiographic abnormalities of the vertebrae, hands, and hip joints, and recurrent otitis media in infancy (Niikawa et al., 1981). Genetic HeterogeneityKabuki syndrome-2 (OMIM ) is caused by mutation in the KDM6A gene (OMIM ) on chromosome Xp11.3.

KABUKI SYNDROME 1; KABUK1 Is also known as kabuki syndrome|kabuki make-up syndrome|kms|niikawa-kuroki syndrome

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about KABUKI SYNDROME 1; KABUK1

Low match MACROCEPHALY/MEGALENCEPHALY SYNDROME, AUTOSOMAL RECESSIVE; MGCPH


Macrocephaly refers to an abnormally enlarged head inclusive of the scalp, cranial bones, and intracranial contents. Macrocephaly may be due to megalencephaly (true enlargement of the brain parenchyma), and the 2 terms are often used interchangeably in the genetic literature (reviews by Olney, 2007 and Williams et al., 2008). Autosomal recessive macrocephaly/megalencephaly syndrome is characterized by an enlarged cranium apparent at birth or in early childhood. Affected individuals have intellectual disability and may have dysmorphic facial features resulting from the macrocephaly (summary by Alfaiz et al., 2014).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Abnormal facial shape
  • Cognitive impairment


SOURCES: MESH OMIM MENDELIAN

More info about MACROCEPHALY/MEGALENCEPHALY SYNDROME, AUTOSOMAL RECESSIVE; MGCPH

Low match MACROCEPHALY-DEVELOPMENTAL DELAY SYNDROME


Macrocephaly-developmental delay syndrome is a rare, intellectual disability syndrome characterized by macrocephaly, mild dysmorphic features (frontal bossing, long face, hooded eye lids with small, downslanting palpebral fissures, broad nasal bridge, and prominent chin), global neurodevelopmental delay, behavioral abnormalities (e.g. anxiety, stereotyped movements) and absence or generalized tonic-clonic seizures. Additional features reported in some patients include craniosynostosis, fifth finger clinodactyly, recurrent pneumonia, and hepatosplenomegaly.

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • High palate


SOURCES: ORPHANET OMIM MENDELIAN

More info about MACROCEPHALY-DEVELOPMENTAL DELAY SYNDROME

Low match ISOLATED SCAPHOCEPHALY


Isolated scaphocephaly is a form of nonsyndromic craniosynostosis characterized by premature fusion of the sagittal suture.

ISOLATED SCAPHOCEPHALY Is also known as isolated dolichocephaly|non-syndromic sagittal synostosis

Related symptoms:

  • Frontal bossing
  • Dolichocephaly
  • Increased intracranial pressure
  • Prominent occiput


SOURCES: ORPHANET MENDELIAN

More info about ISOLATED SCAPHOCEPHALY

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 OSTEOGENESIS IMPERFECTA TYPE 1


Osteogenesis imperfecta type I is a mild type of osteogenesis imperfecta (OI; see this term), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures.

OSTEOGENESIS IMPERFECTA TYPE 1 Is also known as van der hoeve syndrome|adair-dighton syndrome|non-deforming osteogenesis imperfecta|oi type 1|mild osteogenesis imperfecta

Related symptoms:

  • Short stature
  • Frontal bossing
  • Mandibular prognathia
  • Dolichocephaly
  • Wormian bones


SOURCES: ORPHANET OMIM MENDELIAN

More info about OSTEOGENESIS IMPERFECTA TYPE 1

Low match MENTAL RETARDATION, X-LINKED 72; MRX72


Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Macrocephaly
  • Obesity


SOURCES: OMIM MESH MENDELIAN

More info about MENTAL RETARDATION, X-LINKED 72; MRX72

Top 5 symptoms//phenotypes associated to Autoimmunity and Dolichocephaly

Symptoms // Phenotype % cases
Global developmental delay Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Macrocephaly Common - Between 50% and 80% cases
Frontal bossing Common - Between 50% and 80% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Scaphocephaly Short stature Micrognathia Generalized hypotonia Delayed speech and language development High palate Downslanted palpebral fissures Cognitive impairment Scoliosis Mandibular prognathia Abnormal facial shape Abnormality of the kidney Hashimoto thyroiditis Myopia Failure to thrive Clinodactyly Low-set ears Diarrhea Hypothyroidism

Rare Symptoms - Less than 30% cases


Megalencephaly Hypertelorism Ventricular septal defect Abnormality of the dentition Brachydactyly Obesity Hearing impairment Atrial septal defect Depressivity Hamartomatous polyposis Intestinal polyposis Arteriovenous malformation Meningioma Lipoma Hamartoma Hydrocephalus Kyphosis Intellectual disability, mild Astigmatism Thyroiditis Patellar dislocation Increased intracranial pressure Cafe-au-lait spot Decreased antibody level in blood Polymicrogyria Joint hypermobility Multiple lipomas Celiac disease Epicanthus Wide nasal bridge Pneumonia Anxiety Autism Recurrent infections Dilatation Immunodeficiency Multiple cafe-au-lait spots Intellectual disability, moderate Cutis marmorata Hypoglycemia Pectus excavatum Wide nose Prominent occiput Myopathy Stereotypy Lymphoma Skeletal muscle atrophy Broad thumb Muscular hypotonia Muscle weakness Subcutaneous nodule Macrotia Malabsorption Prominent forehead Intracranial hemorrhage Posteriorly rotated ears Neoplasm Telangiectasia Chronic diarrhea Craniosynostosis Horseshoe kidney Congenital hip dislocation Long eyelashes Small nail Recurrent otitis media Heterotopia Abnormal vertebral morphology Sparse and thin eyebrow Renal dysplasia Increased body weight Poor suck Hyperbilirubinemia Hydroureter Transposition of the great arteries Severe hearing impairment Long palpebral fissure Nephritis Hypoplastic toenails Right bundle branch block Bundle branch block Preauricular pit Purpura Bilateral cryptorchidism Cupped ear Precocious puberty Brittle hair Failure to thrive in infancy Abnormality of the urinary system Abnormal dermatoglyphics Blue sclerae Intestinal malrotation Coarctation of aorta Respiratory tract infection Micropenis Pes planus Hyperactivity Bowing of the legs Jaundice Hydronephrosis Increased susceptibility to fractures Wormian bones Posterior fossa cyst Tubulointerstitial nephritis Joint laxity Feeding difficulties in infancy Postnatal growth retardation Abnormality of the pinna Protruding ear Congenital diaphragmatic hernia Hypodontia Microdontia Otitis media Growth hormone deficiency Dental malocclusion Prominent nose Sparse eyebrow Single transverse palmar crease Paralysis Highly arched eyebrow Hemolytic anemia Hirsutism Anal atresia Abnormal cardiac septum morphology Coloboma Cerebellar vermis atrophy Short columella Autoimmune hemolytic anemia Nocturnal lagophthalmos Hematuria Liver abscess Prominent eyelashes Premature thelarche Eversion of lateral third of lower eyelids Sparse hair Proteinuria Depressed nasal bridge Short nasal septum Microretrognathia Pilonidal sinus Finger clinodactyly Recurrent pneumonia Vertical orbital dystopia Anoperineal fistula Single ventricle Patellar subluxation Retrognathia Clinodactyly of the 5th finger Hepatosplenomegaly Aggressive behavior Adrenal medullary hypoplasia Cortical tubers Abnormality of the musculature Congenital mitral stenosis Broad nasal tip Pointed chin Psychosis Broad forehead Coarse facial features Optic atrophy Sclerosing cholangitis Crossed fused renal ectopia Congenital hypothyroidism Trichorrhexis nodosa IgA deficiency Autoimmune thrombocytopenia Anal stenosis Overweight Vitiligo Trigonocephaly Depressed nasal tip Short 5th finger Retinal coloboma Mitral stenosis Optic nerve coloboma Cholangitis Small face Broad philtrum Sparse eyelashes Ectodermal dysplasia Recurrent aspiration pneumonia Anorectal anomaly Common atrium Vertebral clefting Epibulbar dermoid Dandy-Walker malformation Abnormality of the middle ear Prominent fingertip pads Anterior plagiocephaly Cerebellar vermis hypoplasia Biliary atresia Bronchomalacia Diaphragmatic eventration Ureteropelvic junction obstruction Recurrent ear infections Severe short stature Endometrial carcinoma Abnormal heart morphology Tremor Papule Leukemia Carcinoma Proximal muscle weakness Narrow mouth Headache Motor delay Palmoplantar keratoderma Cataract Pain Ataxia Neoplasm of the adrenal cortex Abnormal large intestine morphology Uterine neoplasm Nausea and vomiting Hypoplasia of the maxilla Subcutaneous hemorrhage Cranial nerve paralysis Goiter Breast carcinoma Melanoma Hypopigmented skin patches Hemangioma Drooling Neoplasm of the skin Abnormal cerebellum morphology Lymphopenia Gynecomastia Exotropia Intention tremor Overgrowth Macroglossia Abdominal wall muscle weakness Neoplasm of the breast Incoordination Hepatitis Chronic lung disease Relative macrocephaly Abnormal intestine morphology Short chin Type I diabetes mellitus Abnormal lung morphology Asthma Anteverted nares Camptodactyly Proptosis Respiratory failure Diabetes mellitus Splenomegaly Hepatomegaly Interstitial pneumonitis Short nose Visceral angiomatosis Cachexia Thyroid carcinoma Angina pectoris Abnormality of the optic nerve Capillary hemangioma Irregular hyperpigmentation Aortic aneurysm Delayed gross motor development Long philtrum Narrow palate Lymphedema Tall stature Nevus Joint hyperflexibility Neurological speech impairment Delayed skeletal maturation Palmoplantar hyperkeratosis Dysdiadochokinesis Visual loss Transitional cell carcinoma of the bladder Dysplastic gangliocytoma of the cerebellum Trichilemmoma Enlarged cerebellum Cutis marmorata telangiectatica congenita Fibroadenoma of the breast Neoplasm of the thyroid gland Acrokeratosis Ductal carcinoma in situ Mucosal telangiectasiae Pseudopapilledema Progressive macrocephaly Colorectal polyposis Follicular thyroid carcinoma Varicocele Conjunctival hamartoma Merkel cell skin cancer Intestinal polyp Anemia Patent ductus arteriosus Hypospadias Hernia Renal insufficiency Abnormality of the skeletal system Feeding difficulties Ptosis Multiple trichilemmomata Cryptorchidism Cleft palate Strabismus Growth delay Microcephaly Lobular carcinoma in situ Thyroid adenoma Ovarian carcinoma Hand polydactyly Ovarian neoplasm Skin tags Prolactin excess Papilledema Abnormality of the vasculature Renal cell carcinoma Hodgkin lymphoma Hyperthyroidism Furrowed tongue Acute myeloid leukemia Cellulitis Cystic hygroma Abnormality of the thyroid gland Macule Melanocytic nevus Hydrocele testis Abnormality of the uterus Angioid streaks of the fundus Generalized hyperkeratosis Abnormality of the penis Subcutaneous lipoma Colonic diverticula Adenoma sebaceum Decreased proportion of CD4-positive T cells Neoplasm of the central nervous system Fibroma Astrocytoma Papilloma Enlarged polycystic ovaries Cavernous hemangioma Long penis Cellular immunodeficiency Bone cyst Ovarian cyst Long face



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