Autoimmunity, and Flat face

Diseases related with Autoimmunity and Flat face

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


Top matches:

Medium 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 IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 3; ICF3


Immunodeficiency-centromeric instability-facial anomalies syndrome-3 is an autosomal recessive disorder characterized by recurrent infections in childhood and variable dysmorphic facial features. Laboratory studies show hypomethylation of certain chromosomal regions. Additional features, including delayed development, are variable (summary by Thijssen et al., 2015).For a discussion of genetic heterogeneity of immunodeficiency-centromeric instability-facial anomalies syndrome, see ICF1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hearing impairment
  • Microcephaly
  • Scoliosis


SOURCES: OMIM MENDELIAN

More info about IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 3; ICF3

Low match MUCOPOLYSACCHARIDOSIS TYPE 7


Mucopolysaccharidosis type VII (MPS VII) is a very rare lysosomal storage disease belonging to the group of mucopolysaccharidoses.

MUCOPOLYSACCHARIDOSIS TYPE 7 Is also known as mpsvii|beta-glucuronidase deficiency|sly disease|mucopolysaccharidosis type vii|mps7

Related symptoms:

  • Intellectual disability
  • Scoliosis
  • Muscular hypotonia
  • Short neck
  • Splenomegaly


SOURCES: ORPHANET MENDELIAN

More info about MUCOPOLYSACCHARIDOSIS TYPE 7

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Other less relevant matches:

Low match HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 2; HKLLS2


Hennekam lymphangiectasia-lymphedema syndrome is an autosomal recessive disorder characterized by generalized lymphatic dysplasia affecting various organs, including the intestinal tract, pericardium, and limbs. Additional features of the disorder include facial dysmorphism and cognitive impairment (summary by Alders et al., 2014).For a discussion of genetic heterogeneity of Hennekam lymphangiectasia-lymphedema syndrome, see HKLLS1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Hearing impairment
  • Microcephaly
  • Growth delay


SOURCES: OMIM MENDELIAN

More info about HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 2; HKLLS2

Low match AYME-GRIPP SYNDROME; AYGRP


Ayme-Gripp syndrome is a clinically homogeneous phenotype characterized by congenital cataracts, sensorineural hearing loss, intellectual disability, seizures, brachycephaly, a distinctive flat facial appearance, and reduced growth (Niceta et al., 2015).

AYME-GRIPP SYNDROME; AYGRP Is also known as cataracts, congenital, with sensorineural deafness, down syndrome-like facial appearance, short stature, and mental retardation

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about AYME-GRIPP SYNDROME; AYGRP

Low match SLC39A8-CDG


Congenital disorder of glycosylation type IIn (CDG2N) is an autosomal recessive severe multisystem developmental disorder characterized by delayed psychomotor development apparent from infancy, hypotonia, and variable additional features, such as short stature, seizures, visual impairment, and cerebellar atrophy. Serum transferrin analysis shows a CDG type II pattern (summary by Boycott et al., 2015 and Park et al., 2015).For a discussion of genetic heterogeneity of CDG type II, see CDG2A (OMIM ).

SLC39A8-CDG Is also known as slc39a8 deficiency|cdg2n|congenital disorder of glycosylation type 2n|cdg iin|cdg syndrome type iin|carbohydrate deficient glycoprotein syndrome type iin|cdgiin|cdg-iin|congenital disorder of glycosylation type iin

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about SLC39A8-CDG

Low match ROBINOW-SORAUF SYNDROME


ROBINOW-SORAUF SYNDROME Is also known as acrocephalosyndactyly, robinow-sorauf type|craniosynostosis-bifid hallux syndrome

Related symptoms:

  • Hypertelorism
  • Strabismus
  • Malar flattening
  • Flat face
  • Plagiocephaly


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about ROBINOW-SORAUF SYNDROME

Low match BLEPHAROCHEILODONTIC SYNDROME 2; BCDS2


Related symptoms:

  • Hypertelorism
  • Abnormal facial shape
  • Hypothyroidism
  • High forehead
  • Cleft lip


SOURCES: OMIM MENDELIAN

More info about BLEPHAROCHEILODONTIC SYNDROME 2; BCDS2

Low match OROFACIODIGITAL SYNDROME XV; OFD15


OROFACIODIGITAL SYNDROME XV; OFD15 Is also known as oral-facial-digital syndrome, type xv|ofds xv

Related symptoms:

  • Hypertelorism
  • Abnormal facial shape
  • Wide nasal bridge
  • Ventriculomegaly
  • Anteverted nares


SOURCES: OMIM MENDELIAN

More info about OROFACIODIGITAL SYNDROME XV; OFD15

Low match ICF SYNDROME


The Immunodeficiency, Centromeric region instability, Facial anomalies syndrome (ICF) is a rare autosomal recessive disease characterized by immunodeficiency, although B cells are present, and by characteristic rearrangements in the vicinity of the centromeres (the juxtacentromeric heterochromatin) of chromosomes 1 and 16 and sometimes 9.

ICF SYNDROME Is also known as centromeric instability, immunodeficiency syndrome|immune deficiency, variable, with centromeric instability of chromosomes 1, 9, and 16|ciid|immunodeficiency-centromeric instability-facial anomalies syndrome|immunodeficiency syndrome, variable

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hypertelorism
  • Failure to thrive


SOURCES: ORPHANET OMIM MENDELIAN

More info about ICF SYNDROME

Top 5 symptoms//phenotypes associated to Autoimmunity and Flat face

Symptoms // Phenotype % cases
Hypertelorism Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Abnormal facial shape Common - Between 50% and 80% cases
Hearing impairment Uncommon - Between 30% and 50% cases
Global developmental delay Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Short stature Low-set ears Epicanthus Malar flattening Seizures High forehead Depressed nasal bridge Polydactyly Decreased antibody level in blood Respiratory tract infection Recurrent infections Scoliosis Growth delay Strabismus Short nose

Rare Symptoms - Less than 30% cases


Cryptorchidism Microcephaly Lymphedema Anteverted nares Limb undergrowth Hypospadias Umbilical hernia Recurrent respiratory infections Shallow orbits Agammaglobulinemia Immunodeficiency Broad hallux Ventriculomegaly Camptodactyly Syndactyly Microtia Intellectual disability, mild Lymphopenia Severe short stature Cataract Narrow mouth Cerebral atrophy Wide nasal bridge Midface retrusion Muscular hypotonia Sensorineural hearing impairment Nystagmus Generalized hypotonia Apnea Short neck Flexion contracture Brachycephaly Visual impairment Abnormality of the dentition Downslanted palpebral fissures Brachydactyly Hyperreflexia Craniofacial asymmetry Arnold-Chiari type I malformation Broad eyebrow Tapered finger Upslanted palpebral fissure Thin upper lip vermilion Cerebellar atrophy Congenital cataract Smooth philtrum Thin vermilion border Posteriorly rotated ears Sparse scalp hair Broad philtrum Tented upper lip vermilion Radioulnar synostosis Mild short stature Delayed cranial suture closure Pericarditis Mandibular prognathia Long philtrum Nail dystrophy Hypsarrhythmia Cerebral cortical atrophy Bronchiectasis Lobulated tongue Failure to thrive Micrognathia Anemia Macrocephaly Diarrhea Pneumonia Malabsorption Neurodegeneration Macroglossia Sepsis Otitis media Sinusitis Postaxial polydactyly Recurrent pneumonia Malnutrition Combined immunodeficiency Bronchitis Protruding tongue Shawl scrotum Communicating hydrocephalus Chronic bronchitis Cellular immunodeficiency Abnormality of chromosome stability Decrease in T cell count Abnormality of neutrophils Molar tooth sign on MRI Hydronephrosis Osteopenia Plagiocephaly Craniosynostosis Abnormality of the liver Hypermetropia Poor speech Astigmatism Joint hypermobility Inability to walk Intellectual disability, profound Pericardial lymphangiectasia Knee flexion contracture Cutaneous syndactyly Hypopnea Long nose Agenesis of corpus callosum Narrow nose Craniofacial dysostosis Duplication of phalanx of hallux Hypothyroidism Cleft lip Facial asymmetry Anal atresia Reduced number of teeth Ectropion Conical tooth Distichiasis Ectropion of lower eyelids Euryblepharon Ptosis Diaphyseal thickening Pulmonary lymphangiectasia Abnormal form of the vertebral bodies Pulmonary hypoplasia Retinal detachment Limitation of joint mobility Waddling gait High myopia Lumbar hyperlordosis Osteoarthritis Abnormal lung morphology Abnormality of the metaphysis Abnormality of epiphysis morphology Paresthesia Rhizomelia Coxa vara Sleep apnea Growth abnormality Genu varum Back pain Spondyloepiphyseal dysplasia Bowing of the legs Vestibular dysfunction Retinal degeneration Micromelia Restrictive ventilatory defect Kyphosis Muscle weakness Cleft palate Pain Hypertension Myopia Gait disturbance Talipes equinovarus Respiratory distress Congestive heart failure Hernia Genu valgum Glaucoma Skeletal dysplasia Arthritis Hyperlordosis Pectus carinatum Broad forehead Hip dislocation Platyspondyly Narrow chest Short thorax Progressive sensorineural hearing impairment Irregular dentition Mucopolysacchariduria Ascites Hepatitis Hydrops fetalis Metatarsus adductus Abnormality of the hip bone Epiphyseal stippling Arteriovenous malformation Abnormality of the pleura Enlarged thorax Anterior beaking of lumbar vertebrae Joint stiffness Anterior beaking of lower thoracic vertebrae Cognitive impairment Edema Intellectual disability, severe Osteoporosis Blepharophimosis Hypoproteinemia Intestinal lymphangiectasia Erysipelas Corneal opacity Coarse facial features Disproportionate short stature Retinoschisis Hypoplasia of the odontoid process Vitreoretinopathy Barrel-shaped chest Ovoid vertebral bodies Myelopathy Limited elbow movement Flattened epiphysis Cervical myelopathy Limited hip movement Delayed pubic bone ossification Inguinal hernia Sciatica Neonatal short-trunk short stature Limitation of knee mobility Delayed calcaneal ossification Intrauterine growth retardation Conductive hearing impairment Recurrent upper respiratory tract infections Tapetoretinal degeneration Hypoplastic ischia Splenomegaly Impaired T cell function



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