Autoimmunity, and Low posterior hairline

Diseases related with Autoimmunity and Low posterior hairline

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


Top matches:

Medium match NOONAN SYNDROME 8; NS8


Noonan syndrome-8 is an autosomal dominant disorder characterized by short stature, distinctive facial features, and a high incidence of congenital heart defects and hypertrophic cardiomyopathy. A subset of patients show intellectual disabilities (summary by Aoki et al., 2013).For a phenotypic description and a discussion of genetic heterogeneity of Noonan syndrome, see NS1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Short stature
  • Scoliosis
  • Hypertelorism
  • Failure to thrive


SOURCES: OMIM MENDELIAN

More info about NOONAN SYNDROME 8; NS8

Medium match PROLIDASE DEFICIENCY


Prolidase deficiency is an inherited disorder of peptide metabolism characterized by severe skin lesions, recurrent infections (involving mainly the skin and respiratory system), dysmorphic facial features, variable cognitive impairment, and splenomegaly.

PROLIDASE DEFICIENCY Is also known as hyperimidodipeptiduria

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hearing impairment
  • Hypertelorism
  • Micrognathia


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about PROLIDASE DEFICIENCY

Medium 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

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Other less relevant matches:

Medium 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 KLIPPEL-FEIL SYNDROME 1, AUTOSOMAL DOMINANT; KFS1


Klippel-Feil syndrome (KFS) is a congenital anomaly characterized by a defect in the formation or segmentation of the cervical vertebrae, resulting in a fused appearance. The clinical triad consists of short neck, low posterior hairline, and limited neck movement, although less than 50% of patients demonstrate all 3 clinical features (Tracy et al., 2004). Genetic Heterogeneity of Klippel-Feil SyndromeAdditional forms of KFS include autosomal recessive KFS2 (OMIM ), caused by mutation in the MEOX1 gene (OMIM ) on chromosome 17q21, autosomal dominant KFS3 (OMIM ), caused by mutation in the GDF3 gene (OMIM ) on chromosome 12p13, and autosomal recessive KFS4 (OMIM ), caused by mutation in the MYO18B gene (OMIM ) on chromosome 22q12.See also MURCS association (OMIM ), in which Klippel-Feil anomaly is associated with urogenital anomalies.

KLIPPEL-FEIL SYNDROME 1, AUTOSOMAL DOMINANT; KFS1 Is also known as cervical vertebral fusion, autosomal dominant|kfs

Related symptoms:

  • Hearing impairment
  • Scoliosis
  • Sensorineural hearing impairment
  • Cleft palate
  • Macrocephaly


SOURCES: OMIM MENDELIAN

More info about KLIPPEL-FEIL SYNDROME 1, AUTOSOMAL DOMINANT; KFS1

Low match KLIPPEL-FEIL SYNDROME 3, AUTOSOMAL DOMINANT; KFS3


Klippel-Feil syndrome is a congenital anomaly characterized by a defect in the formation or segmentation of the cervical vertebrae, resulting in a fused appearance. The clinical triad consists of short neck, low posterior hairline, and limited neck movement, although less than 50% of patients demonstrate all 3 clinical features (Tracy et al., 2004).For a general description and a discussion of genetic heterogeneity of Klippel-Feil syndrome, see KFS1 (OMIM ).

Related symptoms:

  • Scoliosis
  • Short neck
  • Coloboma
  • Iris coloboma
  • Low posterior hairline


SOURCES: OMIM MENDELIAN

More info about KLIPPEL-FEIL SYNDROME 3, AUTOSOMAL DOMINANT; KFS3

Low match COMBINED IMMUNODEFICIENCY-ENTEROPATHY SPECTRUM


COMBINED IMMUNODEFICIENCY-ENTEROPATHY SPECTRUM Is also known as cid-mia/early-onset ibd

Related symptoms:

  • Intrauterine growth retardation
  • Ventricular septal defect
  • Immunodeficiency
  • Polyhydramnios
  • Sparse hair


SOURCES: ORPHANET MENDELIAN

More info about COMBINED IMMUNODEFICIENCY-ENTEROPATHY SPECTRUM

Low match MENTAL RETARDATION, X-LINKED 91; MRX91


Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Abnormal facial shape


SOURCES: OMIM MESH MENDELIAN

More info about MENTAL RETARDATION, X-LINKED 91; MRX91

Low match X-LINKED INTELLECTUAL DISABILITY, SIDERIUS TYPE


X-linked intellectual disability, Siderius type is characterised by mild to borderline intellectual deficit associated with cleft lip/palate. Preaxial polydactyly, large hands and cryptorchidism are sometimes present. The syndrome has been described in seven boys from two families. Transmission is X-linked and the syndrome is caused by mutations in the PHF8 gene, localised to the p11.21 region of the X chromosome.

X-LINKED INTELLECTUAL DISABILITY, SIDERIUS TYPE Is also known as siderius-hamel syndrome|mental retardation, x-linked, syndromic, siderius type

Related symptoms:

  • Intellectual disability
  • Scoliosis
  • Cleft palate
  • Cryptorchidism
  • Delayed speech and language development


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about X-LINKED INTELLECTUAL DISABILITY, SIDERIUS TYPE

Low match GLYCOGEN STORAGE DISEASE DUE TO ALDOLASE A DEFICIENCY


Glycogen storage disease due to aldolase A deficiency is an extremely rare glycogen storage disease (see this term) characterized by hemolytic anemia with or without myopathy or intellectual deficit. Myopathy can be severe enough to result in fatal rhabdomyolysis in some patients. A family with episodic rhabdomyolysis (triggerd by fever) without hemolytic anemia has recently been reported.

GLYCOGEN STORAGE DISEASE DUE TO ALDOLASE A DEFICIENCY Is also known as glycogenosis type xii|red cell aldolase deficiency|gsd type xii|gsd type 12|gsd xii|aldolase deficiency, red cell|aldoa deficiency|gsd due to aldolase a deficiency|glycogen storage disease type 12|glycogenosis type 12|glycogen storage disease type xii|gly

Related symptoms:

  • Intellectual disability
  • Short stature
  • Growth delay
  • Muscle weakness
  • Ptosis


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about GLYCOGEN STORAGE DISEASE DUE TO ALDOLASE A DEFICIENCY

Top 5 symptoms//phenotypes associated to Autoimmunity and Low posterior hairline

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Short neck Common - Between 50% and 80% cases
Scoliosis Common - Between 50% and 80% cases
Delayed speech and language development Uncommon - Between 30% and 50% cases
Short stature Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Autoimmunity and Low posterior hairline. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Ventricular septal defect Psoriasiform dermatitis Global developmental delay Hearing impairment Abnormal facial shape Anemia High palate Cleft palate Atrial septal defect Obesity Ptosis Thrombocytopenia Recurrent infections Nasal speech Cholelithiasis Intellectual disability, mild Unilateral renal agenesis Hemolytic anemia Abnormality of the pinna Abnormality of cardiovascular system morphology Immunodeficiency Graves disease Autoimmune hemolytic anemia Seizures Patent ductus arteriosus Cognitive impairment Hypertelorism Epicanthus Abnormal heart morphology

Rare Symptoms - Less than 30% cases


Blepharophimosis Bulbous nose Cleft upper lip Bifid uvula Conductive hearing impairment Chorea Renal agenesis Specific learning disability Amenorrhea Tetralogy of Fallot Arthritis Retrognathia Umbilical hernia Hydrocephalus Generalized hypotonia Microcephaly Muscular hypotonia Decreased cervical spine mobility Fever Hypoplasia of the corpus callosum Behavioral abnormality Renal dysplasia Cervical C2/C3 vertebral fusion Intestinal malrotation Absent speech Inguinal hernia Posteriorly rotated ears Hypothyroidism Primary amenorrhea Right aortic arch Spina bifida Aplasia of the thymus Interrupted aortic arch Aplasia of the uterus Seborrheic dermatitis Juvenile rheumatoid arthritis Myelomeningocele Truncus arteriosus Meningocele Impaired T cell function Hypoparathyroidism Vitiligo Duodenal stenosis Retinal vascular tortuosity Bipolar affective disorder Conotruncal defect Arteria lusoria Perimembranous ventricular septal defect Microtia Purpura Bicuspid aortic valve Arnold-Chiari malformation Hypoplasia of the thymus Iris coloboma Schizophrenia Rheumatoid arthritis Posterior embryotoxon Cleft lip Sacral meningocele Right aortic arch with mirror image branching Inflammation of the large intestine Abnormality of the middle ear Autoimmune thrombocytopenia Hypocalcemia Acne Hyperkeratosis Cryptorchidism Webbed neck Hepatitis Pulmonic stenosis Intellectual disability, severe Relative macrocephaly Downslanted palpebral fissures Micrognathia Splenomegaly Polyhydramnios Systemic lupus erythematosus Short nose Low-set ears Macrocephaly Hepatomegaly Abnormality of the genitourinary system Rocker bottom foot Abnormality of the ribs Mixed hearing impairment Otitis media Vertebral fusion Fused cervical vertebrae Sprengel anomaly External ear malformation Stiff neck Bimanual synkinesia Posterior fossa cyst Congenital muscular torticollis Abnormal vertebral segmentation and fusion Moderate hearing impairment Abnormality of limb bone morphology Failure to thrive Mild conductive hearing impairment Limited neck range of motion Facial asymmetry Parathyroid hypoplasia Sensorineural hearing impairment Amblyopia Abnormality of the kidney Craniosynostosis Attention deficit hyperactivity disorder Short philtrum Edema Generalized tonic-clonic seizures Astigmatism Polymicrogyria Cardiomyopathy High, narrow palate Coarctation of aorta Short palpebral fissure Broad thumb Exotropia Type I truncus arteriosus Sclerocornea Tetany Anterior segment developmental abnormality Femoral hernia Alcoholism Perisylvian polymicrogyria Abnormality of the thymus Vascular tortuosity Esophoria Accommodative esotropia Decreased circulating parathyroid hormone level Coloboma Parathyroid agenesis Cervicomedullary schisis Abnormality of the hip bone Chorioretinal coloboma Bilateral cleft lip Pes planus Autistic behavior Synophrys Oral cleft Long face Broad nasal tip Decreased testicular size Sloping forehead Prominent supraorbital ridges Preaxial polydactyly Large hands Preaxial hand polydactyly Slender finger Thoracic kyphosis Bilateral cleft lip and palate Polydactyly Long toe Growth delay Muscle weakness Fatigue Myopathy Jaundice Respiratory tract infection Delayed puberty Rhabdomyolysis Spherocytosis Normocytic anemia Nonspherocytic hemolytic anemia Cholecystitis Increased muscle fatiguability Autism Upslanted palpebral fissure Telecanthus Intestinal atresia Retinal coloboma Cervical C5/C6 vertebrae fusion Cervical C3/C4 vertebral fusion Intrauterine growth retardation Sparse hair Nail dystrophy Abdominal distention Omphalocele Thickened skin Type I diabetes mellitus Absent eyebrow Hashimoto thyroiditis Alopecia of scalp Severe combined immunodeficiency Ectopic calcification Macrodontia Clinodactyly Short 5th finger Cubitus valgus Severe muscular hypotonia Short foot Small hand Severe global developmental delay Recurrent abscess formation Bloody diarrhea Abnormality of the ductus choledochus Peritoneal abscess Congenital cystic adenomatoid malformation of the lung Gastrointestinal atresia Jejunoileal ulceration Rectal abscess Thoracic scoliosis Neoplasm Hydronephrosis Dysmetria Hyperactivity Inflammatory abnormality of the skin Depressed nasal ridge Cutaneous photosensitivity Dehydration Anxiety Aggressive behavior Mental deterioration Convex nasal ridge Asthma Palmoplantar keratoderma Congenital cataract Anal atresia Hirsutism Dementia Dry skin Arachnodactyly Genu valgum Vesicoureteral reflux Underdeveloped nasal alae Carious teeth Pruritus Papule Peripheral demyelination Skin rash Psychosis Erythema Open mouth Thin skin Abnormal lung morphology Hallucinations Increased antibody level in blood Abnormality of the immune system Prolonged neonatal jaundice Hypoplasia of the zygomatic bone Chronic lung disease Concave nasal ridge White forelock Elevated erythrocyte sedimentation rate Poliosis Facial hirsutism Crusting erythematous dermatitis Diffuse telangiectasia Recurrent cystitis Petechiae Osteomyelitis Depressivity Reduced bone mineral density Abnormality of the fingernails Cataract Generalized hirsutism Recurrent pneumonia Bilateral single transverse palmar creases Cerebellar atrophy Low anterior hairline Skin ulcer Lymphedema Abnormality of retinal pigmentation Hernia Hypospadias Elevated hepatic transaminase Hepatosplenomegaly Narrow mouth Psychotic episodes Abnormality of the endocrine system Pulmonary artery atresia Pleural effusion Hyperextensible skin Hyperpigmentation of the skin Platybasia Mood swings Left ventricular hypertrophy Ventricular hypertrophy Abnormality of the cardiovascular system Paranoia Giant platelets Velopharyngeal insufficiency Leukemia Abnormality of the sternum Abnormal cardiac septum morphology Central nervous system degeneration Vascular ring Perineal fistula Congenital conductive hearing impairment Hypertrophic cardiomyopathy Unilateral lung agenesis Unilateral primary pulmonary dysgenesis Aplasia/Hypoplasia of the skin Strabismus Flexion contracture Hypertonia Microphthalmia Echolalia Curly hair High forehead Vomiting Multicystic kidney dysplasia Narrow palpebral fissure Proptosis Holoprosencephaly Prominent forehead Recurrent respiratory infections Abnormality of metabolism/homeostasis Abnormality of the hand Malar flattening Dysdiadochokinesis Apathy Obsessive-compulsive behavior Diarrhea Hypoplasia of the brainstem Pierre-Robin sequence Myopathic facies Abnormality of the ear Basal ganglia calcification Axonal loss Submucous cleft hard palate Depressed nasal bridge Anal stenosis Visual impairment Palmoplantar cutis laxa Chylothorax Hearing abnormality Acute lymphoblastic leukemia Delusions Normochromic anemia



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Intrauterine growth retardation and Tall stature, related diseases and genetic alterations Hepatomegaly and Cerebral cortical atrophy, related diseases and genetic alterations Flexion contracture and Pneumonia, related diseases and genetic alterations Leukemia and Abnormality of the dentition, related diseases and genetic alterations Carcinoma and Difficulty walking, related diseases and genetic alterations Microphthalmia and Bifid uvula, related diseases and genetic alterations

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