Cleft palate, and Immunodeficiency

Diseases related with Cleft palate and Immunodeficiency

In the following list you will find some of the most common rare diseases related to Cleft palate and Immunodeficiency 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

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

Other less relevant matches:

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

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

Distal 22q11.2 microdeletion syndrome is a rare chromosomal anomaly syndrome, resulting from the partial deletion of the long arm of chromosome 22, with a highly variable phenotype characterized by prematurity, pre- and post-natal growth retardation, developmental delay (particularly speech), mild intellectual disability, variable cardiac defects, and minor skeletal anomalies (such as clinodactyly). Dysmorphic features include prominent forehead, arched eyebrows, deep set eyes, narrow upslanting palpebral fissures, ear abnormalities, hypoplastic alae nasi, smooth philtrum, down-turned mouth, thin upper lip, retro/micrognatia and pointed chin. For certain very distal deletions, there is a risk of developing malignant rhabdoid tumours.

DISTAL 22Q11.2 MICRODELETION SYNDROME Is also known as distal del(22)(q11.2)|distal monosomy 22q11.2

Related symptoms:

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


SOURCES: ORPHANET MENDELIAN

More info about DISTAL 22Q11.2 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

Ichthyosis follicularis - alopecia - photophobia (IFAP) is a rare genetic disorder characterized by the triad of ichthyosis follicularis, alopecia, and photophobia from birth.

ICHTHYOSIS FOLLICULARIS-ALOPECIA-PHOTOPHOBIA SYNDROME Is also known as ichthyosis follicularis-atrichia-photophobia syndrome|ifap syndrome|ichthyosis follicularis, atrichia, and photophobia with or without brain anomalies, retardation, ectodermal dysplasia, skeletal malformations, hirschsprung disease, ear/eye anomalies, cle

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about ICHTHYOSIS FOLLICULARIS-ALOPECIA-PHOTOPHOBIA SYNDROME

CAYLER CARDIOFACIAL SYNDROME Is also known as depressor anguli oris muscle, hypoplasia of|facial paresis, partial, unilateral|asymmetric crying facies|acf

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about CAYLER CARDIOFACIAL SYNDROME

Top 5 symptoms//phenotypes associated to Cleft palate and Immunodeficiency

Symptoms // Phenotype % cases
Intellectual disability Very Common - Between 80% and 100% cases
Microcephaly Very Common - Between 80% and 100% cases
Global developmental delay Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
Intrauterine growth retardation Common - Between 50% and 80% cases

Other less frequent symptoms

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

Common Symptoms - More than 50% cases

Inguinal hernia

Uncommon Symptoms - Between 30% and 50% cases

Hypertelorism

Common Symptoms - More than 50% cases

Seizures

Uncommon Symptoms - Between 30% and 50% cases

Low-set ears Growth delay Polydactyly Malar flattening Choanal atresia Hearing impairment Recurrent respiratory infections Cryptorchidism Micropenis Oligohydramnios Underdeveloped nasal alae Blepharophimosis Pointed chin Smooth philtrum Prominent nasal bridge Attention deficit hyperactivity disorder Deeply set eye Posteriorly rotated ears Atrial septal defect Neoplasm Cleft lip Small for gestational age Scoliosis Cleft upper lip Pulmonary hypoplasia Short neck Micrognathia High forehead Depressed nasal bridge Wide nasal bridge Kyphosis Ventriculomegaly Recurrent urinary tract infections Language impairment Hernia Combined immunodeficiency Toe syndactyly Hydronephrosis Sensorineural hearing impairment Recurrent infections Microphthalmia Renal agenesis Anal atresia Mental deterioration Hypospadias Highly arched eyebrow Long face Macrotia Ventricular septal defect Aortic regurgitation Oral cleft Pyloric stenosis Motor delay

Rare Symptoms - Less than 30% cases

Anophthalmia Flexion contracture Short palm Depressivity Conjunctivitis Unilateral renal agenesis Hypohidrosis Renal dysplasia Omphalocele Long nose Nail dysplasia Ectodermal dysplasia Vesicoureteral reflux Bowing of the long bones Facial asymmetry Failure to thrive Abnormal eyelid morphology Arachnodactyly High, narrow palate Photophobia Hyperkeratosis Hand polydactyly Alopecia Premature birth Renal hypoplasia Hip dislocation Abnormality of the urinary system Cupped ear Urethral atresia Anal stenosis Absent eyebrow Joint hyperflexibility Hemivertebrae Absent septum pellucidum Keratitis Tics Oculomotor apraxia Sandal gap Abnormality of earlobe Ankyloglossia Hyperlordosis Thin upper lip vermilion Truncus arteriosus Camptodactyly of finger Respiratory insufficiency Ulnar deviation of finger Bowel incontinence Obsessive-compulsive behavior Aortic aneurysm Hyperactivity Absent toenail Absent fingernail Hydroureter Clinodactyly of the 5th finger Ectrodactyly Blepharitis Talipes Heat intolerance Coxa valga Dilatation Narrow mouth Branchial fistula Recurrent corneal erosions Behavioral abnormality Myopia Feeding difficulties Abnormality of the hair Muscular hypotonia Pes planus Short distal phalanx of finger Absent eyelashes Renal cyst Cerebellar hypoplasia Upslanted palpebral fissure Generalized hypotonia Delayed speech and language development Bifid scrotum Long philtrum Autism Intellectual disability, moderate Agenesis of corpus callosum Short philtrum Convex nasal ridge Leukemia Acute lymphoblastic leukemia Severe intrauterine growth retardation Multiple renal cysts Wide nose Acute leukemia Nystagmus Abnormal facial shape Anteverted nares Hydrocephalus Short nose Rhabdomyosarcoma Midface retrusion Neurodegeneration Postaxial polydactyly Abnormal heart morphology Abnormality of the pinna Syndactyly Amenorrhea Ambiguous genitalia Cataract Primary amenorrhea Conductive hearing impairment Blindness Intellectual disability, mild Corneal opacity Small hand Hypertension Episcleritis Tapered finger Abnormality of the upper urinary tract Cognitive impairment Corneal scarring Macrocephaly Flat face Gastroesophageal reflux Congestive heart failure Subcortical cerebral atrophy Broad forehead Coloboma Wide mouth Hyperconvex fingernails Abnormality of temperature regulation Autistic behavior Obesity EEG abnormality Abnormal nasolacrimal system morphology Abnormality of the vertebral column Ptosis Malar prominence Preauricular pit Small face Body odor Progressive vitiligo Dermoid cyst Mastoiditis Dysgammaglobulinemia Hemangioma Penoscrotal hypospadias Anorectal anomaly Recurrent infection of the gastrointestinal tract T-cell lymphoma Pollakisuria B lymphocytopenia Congenital contracture Spina bifida occulta Strabismus Unilateral chest hypoplasia Paronychia Cerebral cortical hemiatrophy Hypoplasia of the bladder Thin fingernail Abnormal pelvis bone morphology Ichthyosis follicularis Cerebellar atrophy Congenital hip dislocation Abnormality of cardiovascular system morphology Patent ductus arteriosus Facial palsy Tetralogy of Fallot Interphalangeal joint contracture of finger Preauricular skin tag Spina bifida Scleritis Microretrognathia Congenital diaphragmatic hernia Dry skin Abnormality of the ribs Eczema Postaxial hand polydactyly Specific learning disability Brain atrophy Palmoplantar keratoderma Ichthyosis Astigmatism Aganglionic megacolon Hypotrichosis Platyspondyly Oligodactyly Nail dystrophy Papule Submucous cleft hard palate Scarring Epidermal acanthosis Hypoplasia of dental enamel Respiratory tract infection Abnormality of the hand Mixed hearing impairment Congenital ichthyosiform erythroderma Intestinal obstruction Erythroderma Psoriasiform dermatitis Scaling skin Urticaria Plagiocephaly Abnormal vertebral morphology Opacification of the corneal stroma Abnormality of dental enamel Recurrent bacterial infections Atonic seizures Multicystic kidney dysplasia Abnormal hair quantity Abnormality of the nail Erythema Developmental regression Psychosis Alopecia totalis Optic nerve coloboma Hypoplastic fingernail Hydrocele testis Missing ribs Olivopontocerebellar atrophy Arnold-Chiari type I malformation Severe combined immunodeficiency Syringomyelia Pulmonary artery atresia Thin eyebrow Oxycephaly Bilateral ptosis Narrow palpebral fissure Short toe Alopecia universalis Cheilitis Follicular hyperkeratosis Chorioretinitis Camptodactyly Intellectual disability, severe Abnormality of the kidney Umbilical hernia Cerebral cortical atrophy Hyperhidrosis Dementia Severe short stature Delayed skeletal maturation Hypoplasia of the corpus callosum Widely-spaced maxillary central incisors Respiratory distress Uveitis Parakeratosis Alopecia of scalp Abnormal eyelash morphology Corneal erosion Frontal bossing Absent nasal bridge Decrease in T cell count Hypoplasia of the thymus Glioma Cutaneous finger syndactyly Calvarial skull defect Choanal stenosis Myelomeningocele Postaxial foot polydactyly Foot polydactyly Facial cleft Gonadal dysgenesis Aplasia/Hypoplasia of the thumb Clitoral hypertrophy Bicornuate uterus Atresia of the external auditory canal Renal hypoplasia/aplasia Cutaneous syndactyly Dental crowding Encephalocele Wide intermamillary distance Dental malocclusion Finger syndactyly High palate Abnormal cortical gyration Vaginal atresia Embryonal rhabdomyosarcoma Cryptophthalmos Severe T-cell immunodeficiency Wide pubic symphysis 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 Cleft ala nasi Gonadoblastoma Difficulty in tongue movements Abnormality of the nares Abnormality of the thymus Upper eyelid coloboma Laryngeal stenosis Abnormality of the anus Bilateral renal agenesis Subglottic stenosis Bilateral microphthalmos Hypodysplasia of the corpus callosum Premature chromatid separation Laryngeal atresia Achalasia Tented upper lip vermilion Narrow forehead Everted lower lip vermilion Bulbous nose Abnormal cardiac septum morphology Low-set, posteriorly rotated ears Abnormality of the dentition Externally rotated hips Bulbar signs Acne Hypoplastic scapulae Mild global developmental delay Generalized dystonia Macroglossia Micromelia Kyphoscoliosis Dystonia Abnormality of the skeletal system Dysphagia Laryngomalacia Biparietal narrowing Cerebral hypoplasia Intellectual disability, profound Triangular mouth Short sternum Mild microcephaly Nephroblastoma Limb-girdle muscular dystrophy Myelodysplasia Sarcoma Hyperpigmentation of the skin Dandy-Walker malformation Everted upper lip vermilion Generalized myoclonic seizures Generalized tonic-clonic seizures Severe global developmental delay Muscular dystrophy Postnatal growth retardation Feeding difficulties in infancy Brachycephaly Clinodactyly Epicanthus Abnormality of the small intestine Extension of hair growth on temples to lateral eyebrow Abnormality of chromosome stability Respiratory failure Cutaneous photosensitivity Sloping forehead Otitis media Prominent nose Lymphoma Hemolytic anemia Abnormality of the nervous system Retrognathia Pneumonia Chronic diarrhea Thrombocytopenia Diarrhea Skeletal muscle atrophy Muscle weakness Ataxia Slow-growing scalp hair Absence of Stensen duct Transverse vaginal septum Abnormal salivary gland morphology Abnormality of the face Bronchiectasis Semilobar holoprosencephaly Freckling Medulloblastoma Recurrent sinopulmonary infections B-cell lymphoma Recurrent bronchitis Hearing abnormality Neuroblastoma Autoimmune hemolytic anemia Abnormality of the musculature Non-midline cleft lip Telangiectasia Abnormality of neuronal migration Premature ovarian insufficiency Deep philtrum Cachexia Recurrent pneumonia Low anterior hairline Lymphopenia Sinusitis Cafe-au-lait spot Dacryocystitis Ureterocele Malformed lacrimal duct Growth hormone deficiency Sparse eyelashes Hypogonadotrophic hypogonadism Sparse and thin eyebrow Abnormality of the genital system Thin skin Split hand Sparse scalp hair Microdontia Broad nasal tip Abnormality of the genitourinary system Hypodontia Hypoplasia of the maxilla Abnormality of the foot Carious teeth Microtia Telecanthus Fever Abnormality of the umbilicus Aplasia/Hypoplasia of the sternum Oligodontia Preaxial polydactyly Nail pits Sparse axillary hair Abnormality of the nasopharynx Duplicated collecting system Nasolacrimal duct obstruction Selective tooth agenesis Central diabetes insipidus Bladder diverticulum Sparse pubic hair Rectovaginal fistula Dysuria Generalized hypopigmentation Epiphora Anodontia Fair hair Blue irides Depressed nasal tip Bilateral cleft lip Split foot Xerostomia Hypoplastic nipples Hypopituitarism Asymmetric crying face


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