Micrognathia, and Combined immunodeficiency

Diseases related with Micrognathia and Combined immunodeficiency

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


Top matches:

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

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

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Other less relevant matches:

Medium 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

Medium match NIJMEGEN BREAKAGE SYNDROME


Nijmegen breakage syndrome is a rare genetic disease presenting at birth with microcephaly, dysmorphic facial features, becoming more noticeable with age, growth delay, and later-onset complications such as malignancies and infections.

NIJMEGEN BREAKAGE SYNDROME Is also known as microcephaly-immunodeficiency-lymphoreticuloma syndrome|ataxia-telangiectasia variant v1|microcephaly with normal intelligence, immunodeficiency, and lymphoreticular malignancies|at-v1|berlin breakage syndrome|ataxia-telangiectasia, variant 1|seemanova sy

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Microcephaly
  • Ataxia


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about NIJMEGEN BREAKAGE SYNDROME

Medium 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

Medium match VICI SYNDROME


Vici syndrome is a very rare and severe congenital multisystem disorder characterized by the principal features of agenesis of the corpus callosum, cataracts, oculocutaneous hypopigmentation, cardiomyopathy and combined immunodeficiency.

VICI SYNDROME Is also known as immunodeficiency with cleft lip/palate, cataract, hypopigmentation, and absent corpus callosum|corpus callosum agenesis-cataract-immunodeficiency syndrome|dionisi-vici-sabetta-gambarara syndrome

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about VICI SYNDROME

Medium match SECKEL SYNDROME 9; SCKL9


Related symptoms:

  • Global developmental delay
  • Short stature
  • Microcephaly
  • Growth delay
  • Failure to thrive


SOURCES: OMIM MENDELIAN

More info about SECKEL SYNDROME 9; SCKL9

Medium match SANJAD-SAKATI SYNDROME


Sanjad-Sakati syndrome (SSS), also known as hypoparathyroidism - intellectual disability-dysmorphism, is a rare multiple congenital anomaly syndrome, mainly occurring in the Middle East and the Arabian Gulf countries, characterized by intrauterine growth restriction at birth, microcephaly, congenital hypoparathyroidism (that can cause hypocalcemic tetany or seizures in infancy), severe growth retardation, typical facial features (long narrow face, deep-set eyes, beaked nose, floppy and large ears, long philtrum, thin lips and micrognathia), and mild to moderate intellectual deficiency. Ocular findings (i.e. nanophthalmos, retinal vascular tortuosity and corneal opacification/clouding) and superior mesenteric artery syndrome have also been reported. Although SSS shares the same locus with the autosomal recessive form of Kenny-Caffey syndrome (see this term), the latter differs from SSS by its normal intelligence and skeletal features.

SANJAD-SAKATI SYNDROME Is also known as richardson-kirk syndrome|hrd syndrome|sanjad-sakati syndrome|hypoparathyroidism-intellectual disability-dysmorphism syndrome|hypoparathyroidism, congenital, associated with dysmorphism, growth retardation, and developmental delay|sss|hypoparathyroidism wi

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about SANJAD-SAKATI SYNDROME

Medium match BLOOM SYNDROME


Bloom syndrome (BSyn) is a rare chromosomal breakage syndrome characterized by a marked genetic instability associated with pre- and postnatal growth retardation, facial sun-sensitive telangiectatic erythema, increased susceptibility to infections, and predisposition to cancer.

BLOOM SYNDROME Is also known as bls|microcephaly, growth restriction, and increased sister chromatid exchange 1|bs|bsyn|mgrisce1

Related symptoms:

  • Short stature
  • Microcephaly
  • Growth delay
  • Neoplasm
  • Failure to thrive


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about BLOOM SYNDROME

Top 5 symptoms//phenotypes associated to Micrognathia and Combined immunodeficiency

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

Patients with Micrognathia and Combined immunodeficiency. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Short stature

Uncommon Symptoms - Between 30% and 50% cases


Intrauterine growth retardation

Common Symptoms - More than 50% cases


Low-set ears

Uncommon Symptoms - Between 30% and 50% cases


Cryptorchidism

Common Symptoms - More than 50% cases


Recurrent respiratory infections

Uncommon Symptoms - Between 30% and 50% cases


Abnormal facial shape Hypertelorism Ventriculomegaly Depressed nasal bridge Recurrent infections Seizures Failure to thrive Anteverted nares Abnormality of chromosome stability Epicanthus Malar flattening Acute leukemia Short nose Lymphopenia Hypospadias Small for gestational age Generalized hypotonia Posteriorly rotated ears Upslanted palpebral fissure Leukemia Postnatal growth retardation Cleft palate Pneumonia Bronchiectasis Sinusitis Otitis media Severe intrauterine growth retardation Decreased antibody level in blood Long philtrum Diarrhea High forehead Cellular immunodeficiency Short neck Respiratory failure Telangiectasia Cutaneous photosensitivity Convex nasal ridge Micropenis Lymphoma Neoplasm Prominent nose Abnormality of the dentition Hernia Agenesis of corpus callosum Severe combined immunodeficiency Wide nasal bridge Severe global developmental delay

Rare Symptoms - Less than 30% cases


Congenital diaphragmatic hernia IgG deficiency Acute lymphoblastic leukemia Primary amenorrhea Ambiguous genitalia Amenorrhea Renal cyst Hand polydactyly Wide nose Recurrent bacterial infections Respiratory distress Deeply set eye Cardiomyopathy Feeding difficulties in infancy Myopathy Cerebellar hypoplasia Midface retrusion Delayed myelination Muscular hypotonia of the trunk Cataract Small hand Cafe-au-lait spot EEG abnormality Macrotia Abnormality of the face Narrow face Hypertrichosis Chronic lung disease Cleft upper lip Long nose Protruding ear Attention deficit hyperactivity disorder Delayed skeletal maturation Severe short stature Muscular hypotonia Ptosis Recurrent urinary tract infections Feeding difficulties Motor delay Hyperactivity Respiratory insufficiency Muscle weakness Atrial septal defect Congestive heart failure Rhabdomyosarcoma Intellectual disability, mild Microphthalmia Dilatation Polydactyly Multiple renal cysts Nystagmus Type II diabetes mellitus Macrocephaly Anemia Narrow forehead Telangiectasia of the skin Brachycephaly Myelodysplasia Low anterior hairline Hypoplasia of penis Flat face Thin vermilion border Malabsorption Erythema Abnormality of the nervous system Leukopenia Psoriasiform dermatitis Delayed speech and language development Thrombocytopenia Respiratory tract infection Clinodactyly of the 5th finger Neurodegeneration Sepsis Bronchitis Recurrent pneumonia Umbilical hernia Decrease in T cell count Sleep disturbance Recurrent viral infections Abnormal cortical gyration Chronic mucocutaneous candidiasis Fair hair Hypoplasia of the pons Hypopigmentation of the fundus Renal tubular dysfunction Neutropenia Abnormality of the nose Ocular albinism Hypopigmentation of the skin Hypoplasia of the thymus Chronic obstructive pulmonary disease Severe failure to thrive Pontocerebellar atrophy Recurrent aspiration pneumonia Thick vermilion border Acute myeloid leukemia Decreased proportion of CD4-positive T cells Abnormality of the mandible IgA deficiency Hodgkin lymphoma Agenesis of maxillary lateral incisor Hypoplasia of the zygomatic bone Chromosome breakage High, narrow palate Granulocytopenia Hypoplastic pelvis Abnormal posturing Recurrent fungal infections Depressed nasal tip Aspiration pneumonia Triangular face Infantile muscular hypotonia Progressive neurologic deterioration Heterotopia Left ventricular hypertrophy Decreased body weight Abnormality of retinal pigmentation Decreased liver function Cerebellar vermis hypoplasia Spotty hypopigmentation Progressive microcephaly Aspiration Increased body weight Spotty hyperpigmentation Female infertility Aplasia/Hypoplasia of the corpus callosum Adducted thumb IgM deficiency Optic neuropathy Open mouth Neoplasm of the gastrointestinal tract Decreased fertility in females Severe sensorineural hearing impairment Hypopigmentation of hair Hypotelorism Ventricular hypertrophy Poor suck Abnormality of immune system physiology Centrally nucleated skeletal muscle fibers Macular atrophy Neurodevelopmental delay Albinism Congenital sensorineural hearing impairment Renal tubular acidosis Decreased T cell activation Abnormality of the optic disc Short palm Abnormality of dental enamel Hypocalcemia Polymicrogyria Growth hormone deficiency Bifid uvula Short foot Astigmatism Spinal canal stenosis Corneal opacity Low-set, posteriorly rotated ears Thin upper lip vermilion Specific learning disability Hypogonadism Azoospermia Sacral dimple Intestinal obstruction External ear malformation Prominent forehead Dolichocephaly Hyperhidrosis Patchy osteosclerosis Diabetes mellitus Skin rash Congenital hypoparathyroidism Finger syndactyly Infertility Hypoparathyroidism Ichthyosis Hypocalcemic seizures Aplasia/Hypoplasia affecting the eye Tetany Decreased circulating cortisol level Abnormality of the skin Hyperphosphatemia Hypopigmented skin patches Reduced number of teeth Abnormality of the thymus Aplasia/Hypoplasia of the macula Acute bronchitis White matter neuronal heterotopia Severe T-cell immunodeficiency Penile hypospadias Immunoglobulin IgG2 deficiency Ureteral atresia Syndactyly Talipes equinovarus Cutaneous anergy Abnormal immunoglobulin level Frontoparietal polymicrogyria Schizencephaly Abnormal macular morphology Muscle flaccidity Abnormality of the cerebellar vermis Ventricular septal defect Polyhydramnios Hypoplasia of the corpus callosum Clitoral hypertrophy Frontal bossing Pulmonary artery hypoplasia Squamous cell carcinoma Recurrent lower respiratory tract infections Scaphocephaly High pitched voice Cortical gyral simplification Multicystic kidney dysplasia Myeloid leukemia Pachygyria Abnormal lung morphology Pulmonary fibrosis Decreased fetal movement Asthma Long face Abnormal cardiac septum morphology Pulmonary hypoplasia Obesity Congenital cataract Short sternum Ataxia Hypodysplasia of the corpus callosum Embryonal rhabdomyosarcoma Premature chromatid separation Cerebral hypoplasia Triangular mouth Mild microcephaly Retrognathia Bifid scrotum Nephroblastoma Limb-girdle muscular dystrophy Sarcoma Hyperpigmentation of the skin Intellectual disability, profound Oligohydramnios Skeletal muscle atrophy Hydronephrosis Generalized myoclonic seizures Cachexia Abnormality of the musculature Freckling Non-midline cleft lip Abnormality of neuronal migration Premature ovarian insufficiency Deep philtrum Abnormality of the hair Intellectual disability, moderate Chronic diarrhea Choanal atresia Sloping forehead Hemolytic anemia Anal atresia Prominent nasal bridge Mental deterioration Dandy-Walker malformation Generalized tonic-clonic seizures Neuroblastoma Wormian bones Abnormality of the skeletal system Hepatomegaly Pulmonary artery stenosis Natal tooth Myopathic facies Eosinophilia Inflammatory abnormality of the skin Telecanthus Short palpebral fissure Spastic tetraplegia Tetraplegia Hirsutism Short philtrum Narrow mouth Absent speech Hypothyroidism Lymphadenopathy Muscular dystrophy Shawl scrotum Clinodactyly Hydrocephalus Impaired T cell function Abnormality of neutrophils Chronic bronchitis Communicating hydrocephalus Agammaglobulinemia Protruding tongue Pancytopenia Malnutrition Macroglossia Large beaked nose Bird-like facies Abnormality of bone marrow cell morphology Biparietal narrowing Leukocytosis Autoimmune hemolytic anemia Anal stenosis Dilated cardiomyopathy Anophthalmia Optic nerve coloboma Hydrocele testis Missing ribs Arnold-Chiari type I malformation Syringomyelia Unilateral renal agenesis Language impairment Chorioretinitis Bilateral ptosis Pyloric stenosis Aortic regurgitation Microretrognathia Narrow palpebral fissure Hemivertebrae Pointed chin Pulmonary artery atresia Widely-spaced maxillary central incisors Psychosis Hypertonia Joint stiffness Cleft lip Hypertrophic cardiomyopathy Coarse facial features Acidosis Cerebral cortical atrophy Rod-cone dystrophy Cerebellar atrophy Absent nasal bridge Optic atrophy Hyperreflexia Peripheral neuropathy High palate Spasticity Sensorineural hearing impairment Hearing impairment Short toe Renal agenesis Hearing abnormality Pollakisuria Malar prominence Dysgammaglobulinemia Penoscrotal hypospadias Anorectal anomaly Recurrent infection of the gastrointestinal tract T-cell lymphoma B lymphocytopenia Progressive vitiligo Abnormal hair quantity Glioma Medulloblastoma Recurrent sinopulmonary infections B-cell lymphoma Recurrent bronchitis Abnormal eyelid morphology Mastoiditis Scoliosis Underdeveloped nasal alae Autistic behavior Tapered finger Smooth philtrum Talipes Broad forehead Coloboma Blepharophimosis Wide mouth Abnormality of the pinna Strabismus Gastroesophageal reflux Autism Inguinal hernia Behavioral abnormality Myopia Hypertension Cognitive impairment Facial telangiectasia in butterfly midface distribution



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Wide nasal bridge and Ischemic stroke, related diseases and genetic alterations Wide nasal bridge and Microtia, related diseases and genetic alterations Edema and Short foot, related diseases and genetic alterations Skeletal muscle atrophy and Proptosis, related diseases and genetic alterations Obesity and Hypotension, related diseases and genetic alterations

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