Immunodeficiency, and Cleft upper lip

Diseases related with Immunodeficiency and Cleft upper lip

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

Top matches:

Developmental malformations-deafness-dystonia syndrome is characterised by the association of midline malformations, sensory hearing loss, and a delayed-onset generalised dystonia syndrome.

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about DEVELOPMENTAL MALFORMATIONS-DEAFNESS-DYSTONIA SYNDROME

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

Fraser syndrome is an autosomal recessive malformation disorder characterized by cryptophthalmos, syndactyly, and abnormalities of the respiratory and urogenital tract (summary by van Haelst et al., 2008). Genetic Heterogeneity of Fraser SyndromeFraser syndrome-2 (FRASRS2) is caused by mutation in the FREM2 gene (OMIM ) on chromosome 13q13, and Fraser syndrome-3 (FRASRS3) is caused by mutation in the GRIP1 gene (OMIM ) on chromosome 12q14.See Bowen syndrome (OMIM ) for a comparable but probably distinct syndrome of multiple congenital malformations.

FRASER SYNDROME 1; FRASRS1 Is also known as cryptophthalmos with other malformations|fraser syndrome|cryptophthalmos-syndactyly syndrome

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about FRASER SYNDROME 1; FRASRS1

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

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

Low 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

Low match 3C SYNDROME

Cranio-cerebello-cardiac (3C) syndrome is a rare multiple congenital anomalies syndrome characterized by craniofacial (prominent occiput and forehead, hypertelorism, ocular coloboma, cleft palate), cerebellar (Dandy-Walker malformation, cerebellar vermis hypoplasia) and cardiac (tetralogy of Fallot, atrial and ventricular septal defects) anomalies (see these terms).

3C SYNDROME Is also known as dandy-walker-like malformation with atrioventricular septal defect|craniocerebellocardiac dysplasia|3c syndrome|ritscher-schinzel syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about 3C SYNDROME

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 CHARGE SYNDROME

CHARGE syndrome is a multiple congenital anomaly syndrome characterized by the variable combination of multiple anomalies, mainly Coloboma; Choanal atresia/stenosis; Cranial nerve dysfunction; Characteristic ear anomalies (known as the major 4 C's).

CHARGE SYNDROME Is also known as charge association--coloboma, heart anomaly, choanal atresia, retardation, genital and ear anomalies|hhs|charge association|coloboma-heart defects-atresia choanae-retardation of growth and development-genitourinary problems-ear abnormalities syndrome|hall

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about CHARGE 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 Cleft upper lip

Symptoms // Phenotype % cases
Intellectual disability Very Common - Between 80% and 100% cases
Cleft palate Very Common - Between 80% and 100% cases
Global developmental delay Common - Between 50% and 80% cases
Cleft lip Common - Between 50% and 80% cases
Microcephaly Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Immunodeficiency and Cleft upper lip. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases

Hypertelorism

Uncommon Symptoms - Between 30% and 50% cases

Short stature

Common Symptoms - More than 50% cases

Depressed nasal bridge

Uncommon Symptoms - Between 30% and 50% cases

Hearing impairment Hydronephrosis Scoliosis Low-set ears Hypospadias Renal agenesis Micrognathia Anal atresia Recurrent respiratory infections Lymphopenia Attention deficit hyperactivity disorder Syndactyly Hydrocephalus Pneumonia Generalized hypotonia Abnormality of the thymus Prominent nasal bridge Inguinal hernia Long philtrum Atrial septal defect Ventricular septal defect Growth delay Abnormal heart morphology Seizures Oral cleft Recurrent infections Delayed speech and language development Anal stenosis Micropenis Conductive hearing impairment Abnormality of the pinna High forehead Pulmonary hypoplasia Ventriculomegaly Optic atrophy Kyphosis Ptosis Iris coloboma Abnormal facial shape Abnormality of the urinary system Combined immunodeficiency Retrognathia Small for gestational age Respiratory failure Blindness Short neck Intrauterine growth retardation Abnormality of the skeletal system Neoplasm Hypoplasia of the thymus Hand polydactyly Renal dysplasia Choanal atresia Growth hormone deficiency Microtia Sensorineural hearing impairment Fever Microphthalmia Muscular hypotonia Abnormality of cardiovascular system morphology Postnatal growth retardation Posteriorly rotated ears Autism Tetralogy of Fallot Abnormal cardiac septum morphology Short philtrum Patent ductus arteriosus Decreased antibody level in blood High, narrow palate Feeding difficulties Feeding difficulties in infancy Cryptorchidism High palate

Rare Symptoms - Less than 30% cases

Respiratory insufficiency Abnormality of immune system physiology Muscle weakness Posterior embryotoxon Dandy-Walker malformation Brachydactyly Flexion contracture Interrupted aortic arch Bifid uvula Fair hair Depressed nasal tip Midface retrusion Hypogonadotrophic hypogonadism Frontal bossing Short nose Abnormality of the genital system Omphalocele Prominent forehead Gastroesophageal reflux Vesicoureteral reflux Toe syndactyly Aspiration Blepharophimosis Telecanthus Abnormality of the kidney Coloboma Photophobia Thrombocytopenia Low posterior hairline Dilatation Strabismus Hypertonia Anteverted nares Unilateral renal agenesis Aplasia/Hypoplasia of the cerebellum Polymicrogyria Epicanthus Pulmonic stenosis Chorioretinal coloboma Cerebellar hypoplasia Hemivertebrae Failure to thrive Nystagmus Horseshoe kidney Behavioral abnormality Cerebellar vermis hypoplasia Obesity Narrow mouth Hypothyroidism Umbilical hernia Autoimmune hemolytic anemia Double outlet right ventricle Abnormality of neuronal migration Preauricular skin tag Downslanted palpebral fissures Broad forehead Primary amenorrhea Amenorrhea Hemolytic anemia Macrocephaly Hypocalcemia Parathyroid hypoplasia Alopecia Polydactyly Low-set, posteriorly rotated ears Bulbous nose Highly arched eyebrow Convex nasal ridge Narrow forehead Acne Biparietal narrowing Urethral atresia Wide nasal bridge Finger syndactyly Motor delay Wide nose Abnormal cortical gyration Choanal stenosis Oligohydramnios Renal hypoplasia Myelomeningocele Cutaneous syndactyly Cupped ear Anophthalmia Intellectual disability, moderate Laryngomalacia Neurodegeneration Cataract Malar flattening Dysphagia Mental deterioration Severe T-cell immunodeficiency Hypoplastic fingernail Abnormal immunoglobulin level Cutaneous anergy Decreased T cell activation Narrow naris Mitral stenosis Communicating hydrocephalus Autistic behavior Aplasia/Hypoplasia of the macula Arrhinencephaly Abnormality of the cervical spine Lop ear Bilateral choanal atresia Enlarged cisterna magna Ectopic anus Single umbilical artery Missing ribs Pierre-Robin sequence Aortic arch aneurysm Frontoparietal polymicrogyria Schizencephaly Dimple chin Humoral immunodeficiency Abnormal aortic valve morphology Abnormal macular morphology Lacrimation abnormality Hypoplasia of the corpus callosum Anemia Cognitive impairment Microphallus Primum atrial septal defect Cerebellar malformation Facial hemangioma Immunoglobulin IgG2 deficiency Contractures of the large joints Posterior fossa cyst Abnormality of the fontanelles or cranial sutures Abnormal tricuspid valve morphology Lethal skeletal dysplasia Complete atrioventricular canal defect Aplasia/Hypoplasia of the nipples Abnormal mitral valve morphology Abnormality of female internal genitalia Ureteral atresia Narrow nasal bridge Abnormality of the adrenal glands Bifid femur Unilateral facial palsy Hypoplasia of penis Limb undergrowth Lymphadenopathy Intestinal malrotation Hand monodactyly Postural instability Hypoplasia of the cochlea Neurological speech impairment Large fontanelles Abnormal soft palate morphology Hypoplasia of the semicircular canal Sparse hair Camptodactyly Parachute mitral valve Skeletal dysplasia Posterior choanal atresia Glaucoma Brachycephaly Aplasia/Hypoplasia of the thymus Pancytopenia Adrenal hypoplasia Prominent occiput Penile hypospadias Hepatosplenomegaly White matter neuronal heterotopia Atrioventricular canal defect Abnormality of the hip bone Congenital glaucoma Acute bronchitis Abnormality of bone mineral density Mesomelia Hypoplastic left heart Abnormality of the inner ear Arthritis Abnormal palmar dermatoglyphics Square face Abnormality of the hand Narrow palate Wormian bones Increased head circumference Severe combined immunodeficiency Aortic valve stenosis Peripheral pulmonary artery stenosis Generalized tonic-clonic seizures Craniosynostosis Parathyroid agenesis Broad palm Apnea Facial palsy Polyhydramnios Hypogonadism Clinodactyly of the 5th finger Visual loss Hernia Weak cry Talipes equinovarus Type I truncus arteriosus Absent radius Paralysis Abnormality of the cerebellar vermis Esophageal atresia Decreased circulating parathyroid hormone level Sacral meningocele Accommodative esotropia Esophoria Right aortic arch with mirror image branching Arteria lusoria Aplasia of the thymus External ear malformation Conotruncal defect Vascular tortuosity Abnormality of the eye Pectus carinatum Retinal vascular tortuosity Short chin Abnormality of vision Reduced number of teeth Overfolded helix Obsessive-compulsive behavior Abnormality of the outer ear Bifid scrotum Cranial nerve paralysis Torticollis Plagiocephaly Holoprosencephaly Tracheoesophageal fistula Narrow face Delayed puberty Short thumb Small nail Mask-like facies Abnormality of the ribs Webbed neck Hypoplasia of the ulna Vestibular dysfunction External genital hypoplasia Delayed eruption of teeth Talipes Mixed hearing impairment Facial asymmetry Abnormality of the middle ear Duodenal stenosis Autoimmunity Spina bifida Inflammation of the large intestine Psoriasiform dermatitis Rheumatoid arthritis Abnormality of tibia morphology Cholelithiasis Nasal speech Arnold-Chiari malformation Schizophrenia Bicuspid aortic valve Purpura Labial hypoplasia Aqueductal stenosis Bipolar affective disorder Exotropia Amblyopia Broad thumb Short palpebral fissure Coarctation of aorta Aplasia/Hypoplasia of the earlobes Anterior hypopituitarism Specific learning disability Chorea Astigmatism Anosmia Gonadotropin deficiency Autoimmune thrombocytopenia Vitiligo Perisylvian polymicrogyria Hypoplasia of the zygomatic bone Impaired T cell function Right aortic arch Alcoholism Femoral hernia Perimembranous ventricular septal defect Graves disease Aplasia of the uterus Anterior segment developmental abnormality Seborrheic dermatitis Broad neck Down-sloping shoulders Abnormal cranial nerve morphology Hyposmia Abnormally large globe Juvenile rheumatoid arthritis Eyelid coloboma Duodenal atresia Tetany Retinal coloboma Facial paralysis Truncus arteriosus Sclerocornea Tics Meningocele Hypoparathyroidism Muscle flaccidity Coarse facial features Abnormality of the optic disc Split hand Absent septum pellucidum Hydroureter Epiphora Keratitis Preaxial polydactyly Abnormality of the genitourinary system Oligodontia Sparse eyelashes Conjunctivitis Sparse and thin eyebrow Hypohidrosis Thin skin Sparse scalp hair Ectrodactyly Microdontia Nail dysplasia Ectodermal dysplasia Broad nasal tip Hypodontia Hypoplasia of the maxilla Abnormality of the foot Carious teeth Hyperkeratosis Abnormality of the umbilicus Aplasia/Hypoplasia of the sternum Malformed lacrimal duct Hypopituitarism Hypoplastic nipples Laryngeal atresia Selective tooth agenesis Ataxia Slow-growing scalp hair Absence of Stensen duct Transverse vaginal septum Abnormal salivary gland morphology Dacryocystitis Semilobar holoprosencephaly Ureterocele Nail pits Abnormality of the nasopharynx Duplicated collecting system Nasolacrimal duct obstruction Central diabetes insipidus Xerostomia Bladder diverticulum Recurrent corneal erosions Sparse pubic hair Rectovaginal fistula Dysuria Heat intolerance Sparse axillary hair Generalized hypopigmentation Anodontia Blue irides Bilateral cleft lip Split foot Blepharitis Extension of hair growth on temples to lateral eyebrow Abnormality of the small intestine Diarrhea Long face Dental crowding Encephalocele Ambiguous genitalia Wide intermamillary distance Underdeveloped nasal alae Dental malocclusion Postaxial polydactyly Corneal opacity Everted upper lip vermilion Tented upper lip vermilion Pointed chin Everted lower lip vermilion Smooth philtrum Atresia of the external auditory canal Deeply set eye Abnormality of the dentition Externally rotated hips Achalasia Bulbar signs Hypoplastic scapulae Mild global developmental delay Generalized dystonia Macroglossia Micromelia Kyphoscoliosis Intellectual disability, mild Dystonia Renal hypoplasia/aplasia Clitoral hypertrophy Wide pubic symphysis Abnormality of the anus Midline nasal groove Lacrimal duct aplasia Hypoplastic superior helix Morphological abnormality of the middle ear Aplasia/Hypoplasia of the phalanges of the hand Laryngeal web Cryptophthalmos Cleft ala nasi Difficulty in tongue movements Abnormality of the nares Upper eyelid coloboma Laryngeal stenosis Bilateral renal agenesis Absent eyebrow Subglottic stenosis Bilateral microphthalmos Gonadoblastoma Vaginal atresia Bicornuate uterus Calvarial skull defect Postaxial foot polydactyly Absent eyelashes Foot polydactyly Facial cleft Gonadal dysgenesis Aplasia/Hypoplasia of the thumb Cutaneous finger syndactyly Skeletal muscle atrophy Upslanted palpebral fissure Recurrent aspiration pneumonia Delayed myelination Recurrent bacterial infections Increased body weight Progressive microcephaly Decreased liver function Abnormality of retinal pigmentation Decreased body weight Left ventricular hypertrophy Heterotopia Open mouth Progressive neurologic deterioration Ventricular hypertrophy Hypotelorism Sepsis Aplasia/Hypoplasia of the corpus callosum Triangular face Hypopigmentation of the skin Neutropenia Sleep disturbance Thick vermilion border Congenital cataract Dilated cardiomyopathy Severe global developmental delay Joint stiffness Respiratory tract infection Muscular hypotonia of the trunk Hypertrophic cardiomyopathy Leukopenia Infantile muscular hypotonia Acidosis Ocular albinism Decreased proportion of CD4-positive T cells Abnormality of the mandible Pontocerebellar atrophy Granulocytopenia Abnormal posturing Recurrent fungal infections Hypopigmentation of the fundus Cellular immunodeficiency Recurrent viral infections Chronic mucocutaneous candidiasis Hypoplasia of the pons Renal tubular dysfunction Severe failure to thrive Adducted thumb Aspiration pneumonia IgG deficiency Severe sensorineural hearing impairment Hypopigmentation of hair Optic neuropathy Renal tubular acidosis Centrally nucleated skeletal muscle fibers Bronchitis Macular atrophy Neurodevelopmental delay Albinism Congenital sensorineural hearing impairment Poor suck EEG abnormality Cerebral cortical atrophy Hyperactivity Sinusitis Acute lymphoblastic leukemia Neuroblastoma Abnormality of the musculature Freckling Long nose Non-midline cleft lip Premature ovarian insufficiency Deep philtrum Cachexia Recurrent pneumonia Low anterior hairline Abnormality of the hair Cafe-au-lait spot Acute leukemia Telangiectasia Bronchiectasis Chronic diarrhea Recurrent urinary tract infections Abnormality of the face Cutaneous photosensitivity Sloping forehead Otitis media Prominent nose Lymphoma Leukemia Abnormality of the nervous system Macrotia Hearing abnormality Abnormal eyelid morphology Rod-cone dystrophy Dysgammaglobulinemia Agenesis of corpus callosum Congestive heart failure Cerebellar atrophy Myopathy Cardiomyopathy Respiratory distress Hyperreflexia Peripheral neuropathy Spasticity Progressive vitiligo Mastoiditis Malar prominence Penoscrotal hypospadias Recurrent bronchitis Anorectal anomaly Recurrent infection of the gastrointestinal tract T-cell lymphoma Pollakisuria B lymphocytopenia Decrease in T cell count Abnormal hair quantity Rhabdomyosarcoma Glioma Abnormality of chromosome stability Medulloblastoma Recurrent sinopulmonary infections B-cell lymphoma Postnatal macrocephaly


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