Immunodeficiency, and Short philtrum

Diseases related with Immunodeficiency and Short philtrum

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

Top matches:

15q14 microdeletion syndrome is a recently described syndrome characterized by developmental delay, short stature and facial dysmorphism.

15Q14 MICRODELETION SYNDROME Is also known as del(15)(q14)|monosomy 15q14

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about 15Q14 MICRODELETION SYNDROME

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

High match ALG12-CDG

ALG12-CDG is a form of congenital disorders of N-linked glycosylation characterized by facial dysmorphism (prominent forehead, large ears, thin upper lip), generalized hypotonia, feeding difficulties, moderate to severe developmental delay, progressive microcephaly, frequent upper respiratory tract infections due to impaired immunity with decreased immunoglobulin levels, and decreased coagulation factors. Additional features include hypogonadism with or without hypospadias in males, skeletal anomalies, seizures and cardiac anomalies in some cases. ALG12-CDG is caused by loss of function mutations of the gene ALG12 (22q13.33).

ALG12-CDG Is also known as cdg1g|mannosyltransferase 8 deficiency|congenital disorder of glycosylation type ig|cdgig|cdg ig|carbohydrate deficient glycoprotein syndrome type ig|cdg syndrome type ig|congenital disorder of glycosylation type 1g|cdg-ig

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Microcephaly


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about ALG12-CDG

Other less relevant matches:

ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 1; EEC1 Is also known as eec|eec syndrome 1

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Microcephaly
  • Hypertelorism
  • Cleft palate


SOURCES: OMIM MENDELIAN

More info about ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 1; EEC1

X-linked intellectual disability, Cabezas type is characterised by intellectual deficit, muscle wasting, short stature, a prominent lower lip, small testes, kyphosis and joint hyperextensibility. An abnormal gait, tremor, decreased fine motor coordination and impaired speech are also present. The syndrome has been described in six boys from three generations of the same family. Transmission is X-linked and the causative gene has been localised to the q24-q25 region of the X chromosome.

X-LINKED INTELLECTUAL DISABILITY, CABEZAS TYPE Is also known as cabezas syndrome|mrss|mrxs15|mental retardation, x-linked, with short stature|mental retardation, x-linked, with short stature, hypogonadism, and abnormal gait|mental retardation, x-linked, syndromic 15

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Generalized hypotonia
  • Microcephaly


SOURCES: OMIM ORPHANET MENDELIAN

More info about X-LINKED INTELLECTUAL DISABILITY, CABEZAS TYPE

Takenouchi-Kosaki syndrome is a highly heterogeneous autosomal dominant complex congenital developmental disorder affecting multiple organ systems. The core phenotype includes delayed psychomotor development with variable intellectual disability, dysmorphic facial features, and cardiac, genitourinary, and hematologic or lymphatic defects, including thrombocytopenia and lymphedema. Additional features may include abnormalities on brain imaging, skeletal anomalies, and recurrent infections. Some patients have a milder disease course reminiscent of Noonan syndrome (see, e.g., NS1, {163950}) (summary by Martinelli et al., 2018).

MACROTHROMBOCYTOPENIA-LYMPHEDEMA-DEVELOPMENTAL DELAY-FACIAL DYSMORPHISM-CAMPTODACTYLY SYNDROME Is also known as takenouchi-kosaki syndrome|macrothrombocytopenia and mental retardation syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about MACROTHROMBOCYTOPENIA-LYMPHEDEMA-DEVELOPMENTAL DELAY-FACIAL DYSMORPHISM-CAMPTODACTYLY SYNDROME

In patients with SSMED, short stature and microcephaly are apparent at birth, and there is progressive postnatal growth failure. Endocrine dysfunction, including hypergonadotropic hypogonadism, multinodular goiter, and diabetes mellitus, is present in affected adults. Progressive ataxia has been reported in some patients, with onset ranging from the second to fifth decade of life. In addition, a few patients have developed tumors, suggesting that there may be a predisposition to tumorigenesis. In contrast to syndromes involving defects in other components of the nonhomologous end-joining (NHEJ) complex (see, e.g., {606593}), no clinically overt immunodeficiency has been observed in SSMED, although laboratory analysis has revealed lymphopenia or borderline leukopenia in some patients (Murray et al., 2015; Bee et al., 2015; de Bruin et al., 2015; Guo et al., 2015).

Related symptoms:

  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Microcephaly
  • Ataxia


SOURCES: OMIM MENDELIAN

More info about SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION; SSMED

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

22q11.2 deletion syndrome (DS) is a chromosomal anomaly which causes a congenital malformation disorder whose common features include cardiac defects, palatal anomalies, facial dysmorphism, developmental delay and immune deficiency.

22Q11.2 DELETION SYNDROME Is also known as monosomy 22q11|digeorge sequence|sedlackova syndrome|takao syndrome|velocardiofacial syndrome|shprintzen syndrome|conotruncal anomaly face syndrome|digeorge syndrome|catch 22|cayler cardiofacial syndrome|microdeletion 22q11.2|22q11ds

Related symptoms:

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


SOURCES: ORPHANET MENDELIAN

More info about 22Q11.2 DELETION SYNDROME

A rare, genetic, neurological disease characterized by association of macrocephaly, dysmorphic facial features and psychomotor delay leading to intellectual disability and autism spectrum disorder. Facial dysmorphism may include frontal bossing, hypertelorism, midface hypoplasia, depressed nasal bridge, short nose, and long philtrum.

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hypertelorism
  • Neoplasm
  • Depressed nasal bridge


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about MACROCEPHALY-INTELLECTUAL DISABILITY-AUTISM SYNDROME

Top 5 symptoms//phenotypes associated to Immunodeficiency and Short philtrum

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Microcephaly Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Hypertelorism Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Immunodeficiency and Short philtrum. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases

Inguinal hernia

Uncommon Symptoms - Between 30% and 50% cases

Abnormal facial shape

Common Symptoms - More than 50% cases

Hearing impairment

Uncommon Symptoms - Between 30% and 50% cases

Scoliosis Generalized hypotonia Short stature Recurrent infections Bulbous nose Cryptorchidism Posteriorly rotated ears Obesity Long philtrum Midface retrusion Hypospadias Micropenis Hypoplasia of the corpus callosum Micrognathia Strabismus Thrombocytopenia Delayed speech and language development Behavioral abnormality Cleft palate Low-set ears Attention deficit hyperactivity disorder Renal agenesis Patent ductus arteriosus Hydrocephalus Fever Sensorineural hearing impairment Muscular hypotonia Cognitive impairment Synophrys Downslanted palpebral fissures Intrauterine growth retardation Hypoplasia of the thymus Hypothyroidism Abnormality of the dentition Atrial septal defect Abnormality of the pinna Ventriculomegaly Short neck Hypocalcemia Ventricular septal defect Autism Lymphopenia High forehead Telecanthus Long face Prominent nasal bridge Narrow forehead Ptosis Acne Biparietal narrowing Blepharophimosis Unilateral renal agenesis Cleft lip Hydronephrosis Hernia Absent speech Narrow mouth Upslanted palpebral fissure Neoplasm Umbilical hernia

Rare Symptoms - Less than 30% cases

Tremor Seborrheic dermatitis Tetany Choanal atresia Hand polydactyly Anemia Gait disturbance Truncus arteriosus High palate Impaired T cell function Meningocele Growth delay Macrocephaly Hypoparathyroidism Epicanthus Bipolar affective disorder Posterior embryotoxon Depressed nasal bridge Renal dysplasia Broad-based gait Hypertonia Arthritis Exotropia Renal hypoplasia Clinodactyly Optic atrophy Wide nasal bridge Flexion contracture Nystagmus Ataxia Small earlobe Cerebellar vermis atrophy Truncal obesity Cortical gyral simplification Microphthalmia Abnormality of cardiovascular system morphology Acanthosis nigricans Pes cavus Spina bifida Cholelithiasis Hypogonadism Nasal speech Mandibular prognathia Schizophrenia Purpura Wide mouth Autoimmunity Joint hyperflexibility Polymicrogyria Tetralogy of Fallot Specific learning disability Decreased testicular size Broad nasal tip Vesicoureteral reflux Cataract Intellectual disability, moderate Cardiomyopathy Prominent nose Abnormality of the genital system Limb undergrowth Malar flattening Decreased antibody level in blood Short palpebral fissure Conductive hearing impairment Smooth philtrum Carious teeth Oral cleft Recurrent respiratory infections Progressive microcephaly Microtia Leukopenia Sandal gap Abnormal cardiac septum morphology Failure to thrive Motor delay Severe global developmental delay Severe combined immunodeficiency Laryngomalacia Tented upper lip vermilion Anal atresia Kyphosis Deeply set eye Psoriasiform dermatitis Convex nasal ridge Highly arched eyebrow Talipes equinovarus Toe syndactyly Small for gestational age Chronic lung disease Shuffling gait Overfolded helix Misalignment of teeth Low hanging columella Increased circulating gonadotropin level Abnormality of lipid metabolism Glioma Pneumonia Multinodular goiter Craniosynostosis High, narrow palate Hemolytic anemia Iris coloboma Astigmatism Generalized tonic-clonic seizures Occipital myelomeningocele Abnormality of the kidney Gastrointestinal stroma tumor Frontal bossing Retrognathia Abnormal heart morphology Short nose Long neck Hepatosplenomegaly Autistic behavior Long nose Sensory axonal neuropathy Ectopic kidney Abnormal pyramidal sign Progressive cerebellar ataxia Triangular face Polyneuropathy Sensory neuropathy Falls Dysmetria Hypermetropia Dilated cardiomyopathy Retinopathy Increased head circumference Sparse hair Postnatal growth retardation Rigidity Diabetes mellitus Severe short stature Babinski sign Dysarthria Peripheral neuropathy Pigmentary retinopathy Bradykinesia High pitched voice Slurred speech Broad forehead Lymphadenopathy Pancytopenia Bifid uvula Bilateral cryptorchidism Combined immunodeficiency Postural tremor Dysdiadochokinesis Goiter Sloping forehead Short chin Bone marrow hypocellularity Hypergonadotropic hypogonadism Insulin resistance Abnormal lung morphology Cutaneous photosensitivity Epidermal acanthosis Apraxia Hypotelorism Abnormality of the tonsils Abnormal aortic arch morphology Chorea Conotruncal defect Parathyroid agenesis Parathyroid hypoplasia Decreased circulating parathyroid hormone level Sacral meningocele Accommodative esotropia Esophoria Right aortic arch with mirror image branching Aplasia of the thymus Vascular tortuosity Intellectual disability, mild Abnormality of the thymus Abnormality of the middle ear Retinal vascular tortuosity Duodenal stenosis Perisylvian polymicrogyria Right aortic arch Alcoholism Femoral hernia Type I truncus arteriosus Splenomegaly Interrupted aortic arch Bowel incontinence Chronic otitis media Dysphasia Polycystic kidney dysplasia Hypopigmented skin patches Abnormality of dental enamel Aganglionic megacolon Gastrointestinal hemorrhage Intestinal malrotation Asthma Depressivity Arachnodactyly Feeding difficulties in infancy Anxiety Myalgia Gastroesophageal reflux Polyhydramnios Glaucoma Constipation Perimembranous ventricular septal defect Graves disease Tricuspid atresia Bicuspid aortic valve Inflammation of the large intestine Platybasia Rheumatoid arthritis Arrhinencephaly Abnormal pulmonary valve morphology Anorectal anomaly Arnold-Chiari malformation Retinal arteriolar tortuosity Hypertensive crisis Abnormal aortic valve morphology Amblyopia Broad thumb Primary amenorrhea Abnormality of the thorax Low posterior hairline Coarctation of aorta Multiple suture craniosynostosis Amenorrhea Abnormality of the pharynx Abnormal thrombocyte morphology Aplasia of the uterus Patellar dislocation Anterior segment developmental abnormality Hyperthyroidism Juvenile rheumatoid arthritis Foot polydactyly Myelomeningocele Abnormal lung lobation Sclerocornea Turricephaly Vitiligo Corneal neovascularization Multiple renal cysts Abnormality of the skull Abnormal eyelid morphology Varicose veins Atelectasis Autoimmune thrombocytopenia Chronic obstructive pulmonary disease Autoimmune hemolytic anemia Abnormality of the uterus Arteria lusoria Striae distensae Eversion of lateral third of lower eyelids Oligodontia Hypopituitarism Absent septum pellucidum Hydroureter Epiphora Keratitis Preaxial polydactyly Abnormality of the urinary system Abnormality of the genitourinary system Sparse eyelashes Hypoplastic nipples Conjunctivitis Hypogonadotrophic hypogonadism Sparse and thin eyebrow Hypohidrosis Omphalocele Thin skin Split hand Sparse scalp hair Oligohydramnios Ectrodactyly Xerostomia Nail dysplasia Rectovaginal fistula Abnormality of the nasopharynx Duplicated collecting system Nasolacrimal duct obstruction Selective tooth agenesis Central diabetes insipidus Bladder diverticulum Recurrent corneal erosions Sparse pubic hair Dysuria Blepharitis Heat intolerance Sparse axillary hair Generalized hypopigmentation Anodontia Fair hair Blue irides Depressed nasal tip Bilateral cleft lip Split foot Microdontia Growth hormone deficiency Ureterocele Eosinophilia Respiratory tract infection Skeletal dysplasia Blindness Edema Feeding difficulties Pulmonary artery stenosis Natal tooth Myopathic facies Wormian bones Rhizomelia Inflammatory abnormality of the skin Spastic tetraplegia Tetraplegia Hirsutism Agenesis of corpus callosum Everted upper lip vermilion Pointed chin Everted lower lip vermilion Low-set, posteriorly rotated ears Sepsis Scrotal hypoplasia Ectodermal dysplasia Alopecia Hypodontia Hypoplasia of the maxilla Pulmonary hypoplasia Cleft upper lip Abnormality of the foot Photophobia Hyperkeratosis Polydactyly Syndactyly Hypoplasia of the radius Butterfly vertebrae Generalized edema Prolonged partial thromboplastin time Short femur Short tibia IgG deficiency Abnormality of immune system physiology Short humerus Epiphyseal dysplasia Nail pits Semilobar holoprosencephaly Flared nostrils Reduced visual acuity Nevus Ascites Tapered finger Retinal detachment Downturned corners of mouth Pulmonic stenosis Camptodactyly Thin upper lip vermilion Cerebral cortical atrophy Webbed neck Prominent forehead Cerebellar hypoplasia Cerebellar atrophy Abnormality of the skeletal system Abnormality of toe Moderately short stature Mood swings Abnormality of earlobe Abdominal obesity Dental malocclusion Dandy-Walker malformation Tics Congenital nystagmus Intestinal lymphangiectasia Macrothrombocytopenia Increased mean platelet volume Total anomalous pulmonary venous return Anomalous pulmonary venous return Protein-losing enteropathy Mild microcephaly Retinal dysplasia Abnormality of the periventricular white matter Bilateral sensorineural hearing impairment Abnormality of the sternum Pericardial effusion Overlapping toe Proximal placement of thumb Sparse eyebrow Hypoalbuminemia Widely spaced teeth Abnormal intestine morphology Lymphedema Panhypopituitarism Abnormal hair pattern Dacryocystitis Hyperactivity Neurological speech impairment Camptodactyly of finger Joint laxity Aggressive behavior EEG abnormality Pes planus Coarse facial features Gait ataxia Hyperhidrosis Joint hypermobility Clinodactyly of the 5th finger Intellectual disability, severe Skeletal muscle atrophy Brachydactyly Slow-growing scalp hair Absence of Stensen duct Transverse vaginal septum Abnormal salivary gland morphology Urethral atresia Delayed puberty Short palm Distal lower limb amyotrophy Relative macrocephaly Down-sloping shoulders Scaphocephaly Restlessness Abnormality of the musculature Cortical dysplasia Open bite Large hands Cubitus valgus Cachexia Narrow palpebral fissure Small hand Gynecomastia Short thumb Thick lower lip vermilion Intention tremor Interphalangeal joint contracture of finger Hypoplasia of penis Memory impairment Macroglossia Short foot Postnatal macrocephaly


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Microphthalmia and Bradycardia, related diseases and genetic alterations Optic atrophy and Limb muscle weakness, related diseases and genetic alterations Myopathy and Arthrogryposis multiplex congenita, related diseases and genetic alterations