Abnormal facial shape, and Combined immunodeficiency

Diseases related with Abnormal facial shape and Combined immunodeficiency

In the following list you will find some of the most common rare diseases related to Abnormal facial shape and Combined immunodeficiency that can help you solving undiagnosed cases.


Top matches:

Medium match HYPER-IGE RECURRENT INFECTION SYNDROME, AUTOSOMAL RECESSIVE


Autosomal dominant hyper-IgE recurrent infection syndrome (OMIM ) is a primary immunodeficiency disorder characterized by recurrent Staphylococcus aureus skin abscesses, increased serum IgE, and abnormalities of the connective tissue, skeleton, and dentition (Buckley et al., 1972; Grimbacher et al., 1999).The autosomal recessive form shares hyper-IgE, eosinophilia, and recurrent Staphylococcal infections, but is distinguished from autosomal dominant HIES by the lack of connective tissue and skeletal involvement (Renner et al., 2004).See also TYK2 deficiency (OMIM ), a clinically distinct disease entity that includes characteristic features of both autosomal recessive HIES and mendelian susceptibility to mycobacterial disease (MSMD ) (Minegishi et al., 2006).

HYPER-IGE RECURRENT INFECTION SYNDROME, AUTOSOMAL RECESSIVE Is also known as hyper-ige syndrome, autosomal recessive|hies, autosomal recessive

Related symptoms:

  • Neoplasm
  • Anemia
  • Abnormality of the dentition
  • Immunodeficiency
  • Recurrent infections


SOURCES: OMIM ORPHANET MENDELIAN

More info about HYPER-IGE RECURRENT INFECTION SYNDROME, AUTOSOMAL RECESSIVE

Medium match COMBINED IMMUNODEFICIENCY WITH FACIOOCULOSKELETAL ANOMALIES


Combined immunodeficiency with faciooculoskeletal anomalies is an extremely rare combined immunodeficiency disorder characterized by primary immunodeficiency manifesting with repeated bacterial, viral and fungal infections, in association with neurological manifestations (hypotonia, cerebellar ataxia, myoclonic seizures), developmental delay, optic atrophy, facial dysmorphism (high forehead, hypoplastic supraorbital ridges, palpebral edema, hypertelorism, flat nasal bridge, broad nasal root and tip, anteverted nares, thin lower lip overlapped by upper lip, square chin) and skeletal anomalies (short metacarpals/metatarsals with cone-shaped epiphyses, osteopenia).

COMBINED IMMUNODEFICIENCY WITH FACIOOCULOSKELETAL ANOMALIES Is also known as combined immunodeficiency, facial dysmorphism, optic nerve atrophy, skeletal anomalies, and developmental delay|roifman-chitayat syndrome

Related symptoms:

  • Seizures
  • Global developmental delay
  • Hypertelorism
  • Abnormal facial shape
  • Depressed nasal bridge


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about COMBINED IMMUNODEFICIENCY WITH FACIOOCULOSKELETAL ANOMALIES

Medium match IMMUNODEFICIENCY 49; IMD49


IMMUNODEFICIENCY 49; IMD49 Is also known as severe combined immunodeficiency, t cell-negative, b cell-positive, nk cell-positive, with intellectual disability, spasticity, and craniofacial abnormalities|scid, t cell-negative, b cell-positive, nk cell-positive, with intellectual disability, spastici

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hypertelorism


SOURCES: OMIM MENDELIAN

More info about IMMUNODEFICIENCY 49; IMD49

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Other less relevant matches:

Medium match LIG4 SYNDROME


LIG4 syndrome is a hereditary disorder associated with impaired DNA double-strand break repair mechanisms and characterized by microcephaly, unusual facial features, growth and developmental delay, skin anomalies, and pancytopenia, which is associated with combined immunodeficiency (CID).

LIG4 SYNDROME Is also known as dna ligase iv deficiency|ligase 4 syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Microcephaly
  • Growth delay
  • Micrognathia


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about LIG4 SYNDROME

Medium 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

Medium match PGM3-CDG


PGM3-CDG is a rare congenital disorder of glycosylation caused by mutations in the PGM3 gene and characterized by neonatal to childhood onset of recurrent bacterial and viral infections, inflammatory skin diseases, atopic dermatitis and atopic diatheses, and marked serum IgE elevation. Early neurologic impairment is evident including developmental delay, intellectual disability, ataxia, dysarthria, sensorineural hearing loss, myoclonus and seizures.

PGM3-CDG Is also known as cid due to pgm3 deficiency|immunodeficiency with hyper ige and cognitive impairment|pgm3-related congenital disorder of glycosylation|combined immunodeficiency due to pgm3 deficiency|immunodeficiency-vasculitis-myoclonus syndrome|ivms

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about PGM3-CDG

Medium match IMMUNOSKELETAL DYSPLASIA WITH NEURODEVELOPMENTAL ABNORMALITIES; ISDNA


Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about IMMUNOSKELETAL DYSPLASIA WITH NEURODEVELOPMENTAL ABNORMALITIES; ISDNA

Medium match COG6-CGD


CDG2L is an autosomal recessive multisystem disorder apparent from birth or early infancy. It is characterized by poor growth, gastrointestinal and liver abnormalities, delayed psychomotor development, hypotonia, recurrent infections, hematologic abnormalities, increased bleeding tendency, and hyperhidrosis or hyperkeratosis. More variable features include nonspecific dysmorphic facial features and cardiac septal defects. The disorder often results in death in infancy or the first years of life (summary by Rymen et al., 2015).For a general discussion of CDGs, see CDG1A (OMIM ) and CDG2A (OMIM ).

COG6-CGD Is also known as congenital disorder of glycosylation type 2l|cdg syndrome type iil|cdg-iil|cdg2l|congenital disorder of glycosylation type iil|cdgiil|cdg iil

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly


SOURCES: OMIM ORPHANET MENDELIAN

More info about COG6-CGD

Low match MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1; MVA1


Mosaic variegated aneuploidy is an autosomal recessive disorder characterized by mosaic aneuploidies, predominantly trisomies and monosomies, involving multiple different chromosomes and tissues. The proportion of aneuploid cells varies but is usually more than 25% and is substantially greater than in normal individuals. Affected individuals typically present with severe intrauterine growth retardation and microcephaly. Eye anomalies, mild dysmorphism, variable developmental delay, and a broad spectrum of additional congenital abnormalities and medical conditions may also occur. The risk of malignancy is high, with rhabdomyosarcoma, Wilms tumor, and leukemia reported in several cases (summary by Hanks et al., 2004). Genetic Heterogeneity of Mosaic Variegated Aneuploidy SyndromeSee also MVA2 (OMIM ), caused by mutation in the CEP57 gene (OMIM ) on chromosome 11q21, and MVA3 (OMIM ), caused by mutation in the TRIP13 gene (OMIM ) on chromosome 5p15.

MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1; MVA1 Is also known as mva syndrome

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1; MVA1

Low match PROXIMAL 16P11.2 MICRODELETION SYNDROME


The proximal 16p11.2 microdeletion syndrome is a chromosomal anomaly characterized by developmental and language delays, mild intellectual disability, social impairments (autism spectrum disorders), mild variable dysmorphism and predisposition to obesity.

PROXIMAL 16P11.2 MICRODELETION SYNDROME Is also known as proximal del(16)(p11.2)|proximal monosomy 16p11.2

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Microcephaly
  • Scoliosis


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about PROXIMAL 16P11.2 MICRODELETION SYNDROME

Top 5 symptoms//phenotypes associated to Abnormal facial shape and Combined immunodeficiency

Symptoms // Phenotype % cases
Immunodeficiency Very Common - Between 80% and 100% cases
Global developmental delay Very Common - Between 80% and 100% cases
Intellectual disability Common - Between 50% and 80% cases
Recurrent infections Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Abnormal facial shape and Combined immunodeficiency. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Hypertelorism

Uncommon Symptoms - Between 30% and 50% cases


Lymphopenia Generalized hypotonia Micrognathia Severe combined immunodeficiency Inflammatory abnormality of the skin Ventriculomegaly Wide nasal bridge Depressed nasal bridge Epicanthus Microcephaly Short stature Anemia Growth delay Cryptorchidism Short nose Short neck Upslanted palpebral fissure Abnormality of the skeletal system Posteriorly rotated ears Intrauterine growth retardation Eosinophilia Abnormality of the nervous system Decreased antibody level in blood Low-set ears Anteverted nares Malabsorption Failure to thrive Umbilical hernia Malar flattening

Rare Symptoms - Less than 30% cases


Midface retrusion Nystagmus Psoriasiform dermatitis Leukopenia Hepatomegaly Micropenis Brachycephaly Thrombocytopenia Delayed speech and language development Erythema Leukemia Neoplasm Narrow palpebral fissure Recurrent respiratory infections Impaired T cell function Severe intrauterine growth retardation Multiple renal cysts Scoliosis Bronchiectasis Cognitive impairment Flat face Respiratory tract infection High forehead Hypospadias Lymphoma Diarrhea Macrocephaly Brachydactyly Abnormality of chromosome stability Acute leukemia Renal cyst Gastroesophageal reflux Myelodysplasia Polydactyly Pancytopenia Muscular hypotonia Prominent nose Motor delay Generalized myoclonic seizures Abnormality of the dentition Coarse facial features Hemolytic anemia Asthma Otitis media Eczema Sinusitis Recurrent skin infections Atopic dermatitis Pneumonia Neurodevelopmental delay Muscular hypotonia of the trunk Hernia Cleft palate Severe global developmental delay Agenesis of corpus callosum Macrovesicular hepatic steatosis Postaxial polydactyly Cirrhosis Arthrogryposis multiplex congenita Abnormal cardiac septum morphology Abnormality of the liver Aggressive behavior Neonatal hypotonia Elevated hepatic transaminase Hepatosplenomegaly Amenorrhea Retrognathia Oligohydramnios Ambiguous genitalia Type II transferrin isoform profile Intellectual disability, profound Cataract Sarcoma Hydrocephalus Primary amenorrhea Hepatic steatosis Dandy-Walker malformation Micronodular cirrhosis Abnormal T cell morphology Clinodactyly Proximal tubulopathy Cerebellar hypoplasia Abnormal cortical gyration Loss of consciousness Inflammation of the large intestine Gastrointestinal inflammation Abnormal intestine morphology Feeding difficulties in infancy Hyperbilirubinemia Postnatal growth retardation Abnormal bleeding Hypohidrosis Small for gestational age Chronic diarrhea Muscular dystrophy Generalized tonic-clonic seizures Cholestasis Long philtrum Wide nose Decreased fetal movement Hip dysplasia Focal-onset seizure Hyperpigmentation of the skin Respiratory insufficiency Limb-girdle muscular dystrophy Aortic regurgitation Broad forehead Talipes Smooth philtrum Small hand Tapered finger Underdeveloped nasal alae Renal agenesis Congenital diaphragmatic hernia Psychosis Short toe Pointed chin Hemivertebrae Microretrognathia Pyloric stenosis Coloboma Bilateral ptosis Hand polydactyly Language impairment Anophthalmia Unilateral renal agenesis Long nose Syringomyelia Arnold-Chiari type I malformation Missing ribs Hydrocele testis Optic nerve coloboma Pulmonary artery atresia Chorioretinitis Widely-spaced maxillary central incisors Attention deficit hyperactivity disorder Blepharophimosis Nephroblastoma Myopia Bifid scrotum Acute lymphoblastic leukemia Mild microcephaly Short sternum Rhabdomyosarcoma Triangular mouth Cerebral hypoplasia Premature chromatid separation Embryonal rhabdomyosarcoma Hypodysplasia of the corpus callosum Strabismus Ptosis Feeding difficulties Hypertension Atrial septal defect Wide mouth Congestive heart failure Behavioral abnormality Intellectual disability, mild Microphthalmia Dilatation Obesity Inguinal hernia Hyperactivity Autism Macrotia EEG abnormality Deeply set eye Abnormality of the pinna Autistic behavior Polyhydramnios Autoimmune neutropenia Hyperkeratosis Telecanthus Short philtrum Hirsutism Tetraplegia Narrow forehead Spastic tetraplegia Short palpebral fissure Wormian bones Myopathic facies Natal tooth Pulmonary artery stenosis Clinodactyly of the 5th finger Hypothyroidism Lymphadenopathy Absent speech Thin vermilion border Hypoplasia of penis Type II diabetes mellitus Cutaneous photosensitivity Telangiectasia Low anterior hairline Leukocytosis Telangiectasia of the skin Biparietal narrowing Abnormality of bone marrow cell morphology Bird-like facies Large beaked nose Neurodegeneration Narrow mouth Thin lower lip vermilion Sepsis Esophagitis Recurrent otitis media Abnormal lung morphology Meningitis Recurrent bacterial infections Hemiplegia Osteomyelitis Increased antibody level in blood Autoimmune hemolytic anemia Pericarditis Recurrent sinusitis Subarachnoid hemorrhage Recurrent lower respiratory tract infections Recurrent viral infections Lacrimal duct stenosis Recurrent sinopulmonary infections Recurrent fungal infections Cerebral vasculitis Recurrent upper and lower respiratory tract infections Anaphylactic shock Optic atrophy Osteopenia Arthritis Short metacarpal Short metatarsal Cone-shaped epiphysis Ectopic kidney Underdeveloped supraorbital ridges Macroglossia Recurrent pneumonia Cerebral cortical atrophy Disproportionate short stature Platyspondyly Anal atresia Single transverse palmar crease Broad nasal tip Full cheeks Limb undergrowth Generalized-onset seizure Progressive microcephaly Coxa valga Epiphyseal dysplasia Erythroderma Opisthotonus Metaphyseal dysplasia Skeletal dysplasia Dislocated radial head Hepatic cysts Delayed ossification of carpal bones Hypoplasia of the capital femoral epiphysis Narrow greater sacrosciatic notches Cervical instability Severe platyspondyly Talipes equinovarus Hypoplasia of the corpus callosum Cerebellar atrophy Vomiting Cerebral atrophy Hyperhidrosis Craniosynostosis Kyphoscoliosis Malnutrition High palate Bronchitis Protruding tongue Shawl scrotum Agammaglobulinemia Communicating hydrocephalus Chronic bronchitis Cellular immunodeficiency Decrease in T cell count Abnormality of neutrophils Hearing impairment Ataxia Sensorineural hearing impairment Dysarthria Pectus excavatum Hyporeflexia Myoclonus Conductive hearing impairment Neutropenia Sensory impairment Vasculitis Glomerulonephritis Allergic rhinitis Membranoproliferative glomerulonephritis Vasculitis in the skin Cortical myoclonus Hyperreflexia Kyphosis Absent nasal bridge



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Abnormality of the skeletal system and Short foot, related diseases and genetic alterations Intellectual disability, severe and Glucose intolerance, related diseases and genetic alterations Tremor and Renal cyst, related diseases and genetic alterations Muscle weakness and Hernia, related diseases and genetic alterations Hypertension and Ectodermal dysplasia, related diseases and genetic alterations

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