Pain, and Choanal atresia

Diseases related with Pain and Choanal atresia

In the following list you will find some of the most common rare diseases related to Pain and Choanal atresia that can help you solving undiagnosed cases.


Top matches:

Low match ANKYLOBLEPHARON-ECTODERMAL DEFECTS-CLEFT LIP/PALATE


ANKYLOBLEPHARON-ECTODERMAL DEFECTS-CLEFT LIP/PALATE Is also known as hay-wells syndrome|aec syndrome

Related symptoms:

  • Short stature
  • Hearing impairment
  • Failure to thrive
  • Cleft palate
  • Pain


SOURCES: OMIM MESH MENDELIAN

More info about ANKYLOBLEPHARON-ECTODERMAL DEFECTS-CLEFT LIP/PALATE

Low match ISOLATED ANIRIDIA


Isolated aniridia is a congenital bilateral ocular malformation characterized by the complete or partial absence of the iris.

ISOLATED ANIRIDIA Is also known as an2, formerly|aniridia ii, formerly|an

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about ISOLATED ANIRIDIA

Low match NAGER SYNDROME


Nager syndrome, also called Nager acrofacial dysostosis (NAFD) is a congenital malformation syndrome characterized by mandibulofacial dystosis (malar hypoplasia, micrognathia, external ear malformations) and variable preaxial limb defects.

NAGER SYNDROME Is also known as afd, nager type|mandibulofacial dysostosis, treacher collins type, with limb anomalies|preaxial acrodysostosis|nager acrofacial dysostosis|nager syndrome|mandibulofacial dysostosis with preaxial limb anomalies|nafd

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Microcephaly
  • Scoliosis


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about NAGER SYNDROME

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Other less relevant matches:

Low match 22Q11.2 DELETION SYNDROME


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

Low match DISTAL 22Q11.2 MICRODELETION 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

Low match COFFIN-SIRIS SYNDROME 1; CSS1


Coffin-Siris syndrome is a multiple malformation syndrome characterized by mental retardation associated with coarse facial features, hypertrichosis, sparse scalp hair, and hypoplastic or absent fifth fingernails or toenails. Other more variable features may include poor overall growth, craniofacial abnormalities, spinal anomalies, and congenital heart defects (review by Vergano and Deardorff, 2014). Mutations in the ARID1B gene are the most common cause of Coffin-Siris syndrome (Wieczorek et al., 2013). Genetic Heterogeneity of Coffin-Siris SyndromeForms of Coffin-Siris syndrome have been shown to be caused by mutations in genes encoding subunits of the SWI/SNF complex, also known as the BAF complex, which functions as a chromatin remodeling factor. These include CSS2 (OMIM ), caused by mutation in the ARID1A gene (OMIM ); CSS3 (OMIM ), caused by mutation in the SMARCB1 gene (OMIM ); CSS4 (OMIM ), caused by mutation in the SMARCA4 gene (OMIM ); CSS5 (OMIM ), caused by mutation in the SMARCE1 gene (OMIM ); CSS6 (OMIM ), caused by mutation in the ARID2 gene (OMIM ); and CSS7 (OMIM ), caused by mutation in the DPF2 gene (OMIM ).A similar phenotype, Nicolaides-Baraitser syndrome (NCBRS ), is also caused by mutation in a subunit of this complex, i.e., SMARCA2 (OMIM ).

COFFIN-SIRIS SYNDROME 1; CSS1 Is also known as fifth digit syndrome|coffin-siris syndrome|mrd12|css|mental retardation, autosomal dominant 12

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about COFFIN-SIRIS SYNDROME 1; CSS1

Low match CAYLER CARDIOFACIAL 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

Low match MARSHALL-SMITH SYNDROME


Marshall-Smith syndrome is a rare genetic disease characterized by tall stature and advanced bone age at birth.

MARSHALL-SMITH SYNDROME Is also known as accelerated skeletal maturation-facial dysmorphism-failure to thrive syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about MARSHALL-SMITH SYNDROME

Low match FANCONI ANEMIA


Fanconi anemia (FA) is a hereditary DNA repair disorder characterized by progressive pancytopenia with bone marrow failure, variable congenital malformations and predisposition to develop hematological or solid tumors.

FANCONI ANEMIA Is also known as fanconi pancytopenia|fanconi anemia|fa

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about FANCONI ANEMIA

Low match ISOLATED CONGENITAL BREAST HYPOPLASIA/APLASIA


Congnital aplastic deformities of the breast include amastia (total absence of breasts and nipple), athelia (absence of the nipple), and amazia (absence of the mammary gland). Most common is amastia. Bilateral absence of the breasts may occur as an isolated anomaly or may be associated with a syndrome or a cluster of other anomalies, including anhidrotic ectodermal dysplasia (OMIM ) and Poland syndrome (OMIM ) (summary by Papadimitriou et al., 2009). Genetic Heterogeneity of Aplasia or Hypoplasia of Breasts and/or NipplesAn autosomal recessive form of breast and/or nipple aplasia or hypoplasia (BNAH2 ) is caused by mutation in the PTPRF gene (OMIM ) on chromosome 1p34.

ISOLATED CONGENITAL BREAST HYPOPLASIA/APLASIA Is also known as athelia|amazia|amastia|isolated congenital amastia

Related symptoms:

  • Ectodermal dysplasia
  • Choanal atresia
  • Hyperthyroidism
  • Aplasia/Hypoplasia of the nipples
  • Absent nipple


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about ISOLATED CONGENITAL BREAST HYPOPLASIA/APLASIA

Top 5 symptoms//phenotypes associated to Pain and Choanal atresia

Symptoms // Phenotype % cases
Hearing impairment Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
Cleft palate Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Pain and Choanal atresia. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Microcephaly

Uncommon Symptoms - Between 30% and 50% cases


Patent ductus arteriosus

Common Symptoms - More than 50% cases


Abnormal facial shape

Uncommon Symptoms - Between 30% and 50% cases


Failure to thrive

Common Symptoms - More than 50% cases


Ventricular septal defect

Uncommon Symptoms - Between 30% and 50% cases


Hypertelorism

Common Symptoms - More than 50% cases


Atrial septal defect

Uncommon Symptoms - Between 30% and 50% cases


Neoplasm Strabismus Ptosis Cryptorchidism Scoliosis Toe syndactyly Malar flattening Abnormality of cardiovascular system morphology Seizures Intrauterine growth retardation Low-set ears Tetralogy of Fallot Narrow mouth Prominent nasal bridge Inguinal hernia Agenesis of corpus callosum Joint hyperflexibility Micrognathia Cataract Conductive hearing impairment Feeding difficulties Attention deficit hyperactivity disorder Arachnodactyly Recurrent urinary tract infections Short distal phalanx of finger Pes planus Umbilical hernia Abnormality of the skeletal system Hypospadias Respiratory distress Hernia Hydrocephalus Hypothyroidism Muscular hypotonia Tics Recurrent respiratory infections Clinodactyly of the 5th finger Abnormal heart morphology Growth delay Immunodeficiency Behavioral abnormality Hip dislocation Polymicrogyria Nystagmus Renal hypoplasia Truncus arteriosus Smooth philtrum Bowel incontinence Spina bifida Thin upper lip vermilion Depressed nasal bridge Bowing of the long bones Microphthalmia Generalized hypotonia Facial asymmetry Long face Downslanted palpebral fissures Depressivity Hypoplasia of the corpus callosum Increased body weight High palate Preauricular skin tag Coxa valga Short philtrum Aganglionic megacolon Premature birth Kyphosis

Rare Symptoms - Less than 30% cases


Thrombocytopenia Brachydactyly Talipes equinovarus Posteriorly rotated ears Proptosis Absent radius Low-set, posteriorly rotated ears Wide mouth Clinodactyly Hirsutism Congenital diaphragmatic hernia Short thumb Absent thumb Reduced bone mineral density Aplasia/Hypoplasia of the radius Bicornuate uterus Congestive heart failure Bruising susceptibility Laryngeal hypoplasia Midface retrusion Upslanted palpebral fissure Abnormal cardiac septum morphology Abnormality of the dentition Retrognathia Wide nasal bridge Syndactyly Optic atrophy Epicanthus Hypotrichosis Ventriculomegaly Absent toenail Oculomotor apraxia Sandal gap Aortic regurgitation Pyloric stenosis Aortic aneurysm Language impairment Obsessive-compulsive behavior Ulnar deviation of finger Ankyloglossia Abnormality of earlobe Absent fingernail Underdeveloped nasal alae Branchial fistula Visual impairment Accelerated skeletal maturation Generalized hirsutism Horseshoe kidney Tall stature Postnatal growth retardation Growth hormone deficiency Synophrys Astigmatism Thick eyebrow Pointed chin Highly arched eyebrow Frontal bossing Hyperthyroidism Fatigue Feeding difficulties in infancy Anal atresia Bulbous nose Vesicoureteral reflux Intestinal malrotation Hypopigmented skin patches Laryngomalacia Motor delay Overfolded helix Abnormal eyelid morphology High, narrow palate Abnormality of the uterus Abnormal aortic valve morphology Short sternum Ectopic kidney Hemangioma Sensorineural hearing impairment Deeply set eye Hyperlordosis Blepharophimosis Spina bifida occulta Short palm Delayed speech and language development Triphalangeal thumb Ataxia Ectodermal dysplasia Type I diabetes mellitus Dandy-Walker malformation Trismus Hypopigmentation of the skin Bilateral choanal atresia Anonychia Atresia of the external auditory canal Glaucoma Split hand Diabetes mellitus Hypogonadism Small nail High forehead Camptodactyly Microtia Cleft upper lip Anteverted nares Hypoplasia of the maxilla Micropenis Cleft lip Interphalangeal joint contracture of finger Irregular hyperpigmentation Generalized hypertrichosis Hypotrichosis of the scalp Anterior pituitary hypoplasia External ear malformation Abnormality of the head Aplasia/Hypoplasia of the patella Flexion contracture Patellar hypoplasia Rectal prolapse Aplasia of the uterus Hearing abnormality Chromosome breakage Neoplasm of the liver Recurrent hypoglycemia Enlarged cisterna magna Short 5th finger Aplasia/Hypoplasia of the nipples Gastric ulcer Abnormality of blood and blood-forming tissues Acute myeloid leukemia Myeloid leukemia Lumbosacral hirsutism Hypoplastic fifth fingernail Short distal phalanx of the 5th finger Cerebellar atrophy Polydactyly Multiple cafe-au-lait spots Abnormality of the preputium Prominent interphalangeal joints Short distal phalanx of the 5th toe Severe expressive language delay Premature thelarche Abnormality of digit Facial hypertrichosis Intussusception Facial palsy Duodenal ulcer Ectopic posterior pituitary Hepatoblastoma Dislocated radial head Distal widening of metacarpals Partial agenesis of the corpus callosum Sparse scalp hair Chromosomal breakage induced by crosslinking agents Hypoplastic anemia Absent testis Pyridoxine-responsive sideroblastic anemia Compensated hypothyroidism Almond-shaped palpebral fissure Abnormal carotid artery morphology Prolonged G2 phase of cell cycle Low anterior hairline Anemic pallor Long eyelashes Hypertrichosis Clubbing of toes Thick lower lip vermilion Cerebellar vermis hypoplasia Decreased fetal movement Hypotelorism Deficient excision of UV-induced pyrimidine dimers in DNA Eczema Neoplasm of head and neck Broad nasal tip Delayed eruption of teeth Aplasia/Hypoplasia of the uvula Single transverse palmar crease Decreased fertility in males Partial duplication of thumb phalanx Abnormality of the ulna Acute monocytic leukemia Cutis marmorata Precocious puberty Elevated alkaline phosphatase Congenital hip dislocation Sacral dimple B-cell lymphoma Abnormality of the upper limb Aplastic anemia Abnormality of the testis Abnormality of the thumb Abnormality of femur morphology Abnormality of the hypothalamus-pituitary axis Complete duplication of thumb phalanx Abnormal renal morphology Abnormal localization of kidney Abnormality of chromosome stability Reticulocytopenia Abnormal aortic morphology Abnormality of nervous system morphology Primary hypothyroidism Duodenal stenosis Duplicated collecting system Meckel diverticulum Low-grade fever Aplasia/Hypoplasia of the iris Arteriovenous malformation Absent nipple Congenital contracture Abnormality of the larynx Vertigo Abnormality of skin pigmentation Recurrent aspiration pneumonia Neutropenia Lymphoma Dicarboxylic aciduria Renal agenesis Sloping forehead Oligohydramnios Eclabion Villous atrophy Dolichocephaly Upper airway obstruction Choanal stenosis Obstructive sleep apnea Shallow orbits Aplasia/Hypoplasia of fingers Glossoptosis Megalocornea Poor appetite Hypoplasia of the odontoid process Spinal canal stenosis Protruding tongue Abnormality of the foot Atlantoaxial dislocation Increased susceptibility to fractures Headache Bullet-shaped middle phalanges of the hand Prominence of the premaxilla Short mandibular rami Macrogyria Anhidrotic ectodermal dysplasia Anemia Aplasia/Hypoplasia of the breasts Hepatomegaly Hyperreflexia Fever Renal insufficiency Septo-optic dysplasia Finger syndactyly Severe short stature Weight loss Carcinoma Hypertrophic cardiomyopathy Abnormality of the eye Abnormality of the kidney Irritability Abnormality of the liver Leukemia Small for gestational age Irregular dentition Slender long bone Incoordination Cupped ear Tracheoesophageal fistula Prominent forehead Cerebellar hypoplasia Pneumonia Abnormality of vision Abnormality of the urinary system Pectus excavatum Hyperinsulinemia Cerebral atrophy Myelodysplasia Short nose Hypertension Cranial nerve paralysis Muscle weakness Asymmetric crying face Glucose intolerance Dermoid cyst Hypoplasia of the ulna Body odor Squamous cell carcinoma Hydroureter Small face Large sternal ossification centers Preauricular pit Renal hypoplasia/aplasia Azoospermia Pancytopenia Pulmonary arterial hypertension Short palpebral fissure Sleep apnea Abnormality of the genital system Gingival overgrowth Decreased body weight Telangiectasia Pachygyria Omphalocele Thin skin Open mouth Blue sclerae Overgrowth Leukopenia Aciduria Recurrent fractures Cafe-au-lait spot Insulin resistance Craniosynostosis Apnea Osteopenia Kyphoscoliosis Abnormal vertebral morphology Hypergonadotropic hypogonadism Bone marrow hypocellularity Thick vermilion border Meningocele Wide nose Dental crowding Albinism Anophthalmia Nephroblastoma Ectopia lentis Bilateral ptosis Anosmia Optic nerve hypoplasia Opacification of the corneal stroma Narrow palate Exotropia Amblyopia Renal dysplasia Hypopituitarism Microcornea Retinal detachment Falls Congenital cataract Coloboma Intellectual disability, moderate Muscular hypotonia of the trunk Rigidity Macrotia Reduced visual acuity Gait ataxia Adrenal insufficiency Aniridia Visual loss Macular hypoplasia Dental malocclusion Joint stiffness Skeletal dysplasia Respiratory insufficiency Increased proinsulin:insulin ratio Hypoplasia of the antihelix Aplasia/Hypoplasia of the macula Lumbar kyphosis Aphakia Central adrenal insufficiency Vascular tortuosity Retinal vascular tortuosity Limb hypertonia Central hypothyroidism Lower limb hypertonia Abnormal glucose tolerance Ocular pain Decreased light- and dark-adapted electroretinogram amplitude Peters anomaly Hyposmia Ectopia pupillae Action tremor Hypoplasia of the fovea Hand tremor Hypoplasia of the iris Hyperactivity Hypertonia Short toe Fine hair Erythroderma Brittle hair Widely spaced teeth Sparse eyelashes Conjunctivitis Hoarse voice Sinusitis Hyperpigmentation of the skin Hypohidrosis Recurrent otitis media Inflammatory abnormality of the skin Microdontia 2-3 toe syndactyly Otitis media Sepsis Hypodontia Palmoplantar keratoderma Oral cleft Nail dystrophy Scarring Sparse hair Abnormality of the nervous system Hyperkeratosis Alopecia Hammertoe Anhidrosis Blindness Plantar hyperkeratosis Tremor Otitis externa Vaginal dryness Fibrous syngnathia 3-4 toe syndactyly Lacrimal duct atresia Patchy alopecia Oval face Hyperconvex nail Ankyloblepharon Orthokeratosis Skin erosion Supernumerary nipple Selective tooth agenesis Conical tooth Pili torti Heat intolerance Chronic sinusitis Absent eyelashes Blepharitis Pustule Ectrodactyly Keratoconjunctivitis sicca Sparse body hair Agenesis of permanent teeth Hemiparesis Aortic valve stenosis Confusion Multiple renal cysts Small earlobe Abnormality of the pharynx Abnormal thrombocyte morphology Seborrheic dermatitis Hypoplasia of the thymus Tetany Corneal neovascularization Chronic obstructive pulmonary disease Atelectasis Varicose veins Abnormality of the skull Patellar dislocation Arrhinencephaly Hypoparathyroidism Turricephaly Bipolar affective disorder Abnormal lung lobation Posterior embryotoxon Foot polydactyly Dysphasia Acne Chronic otitis media Abnormality of the thorax Hand polydactyly Platybasia Impaired T cell function Polycystic kidney dysplasia Recurrent infections Severe global developmental delay Autistic behavior Respiratory tract infection Abnormality of the pinna Joint laxity Aggressive behavior Hydronephrosis Hypoglycemia Coarse facial features Abdominal pain Delayed skeletal maturation Dilatation Abnormal pulmonary valve morphology Vomiting Macrocephaly Myopia Camptodactyly of finger Occipital myelomeningocele Abnormality of the tonsils Tricuspid atresia Multiple suture craniosynostosis Abnormal aortic arch morphology Hypertensive crisis Retinal arteriolar tortuosity Anorectal anomaly Cholelithiasis Nasal speech Abnormal palate morphology Non-midline cleft lip Foot oligodactyly Mandibulofacial dysostosis Abnormality of the cervical spine Abnormal nasal morphology Gastroschisis Phocomelia Aqueductal stenosis Abnormality of the lower limb Hypoplasia of the zygomatic bone Facial cleft Aplasia/Hypoplasia of the thumb Limited elbow extension Hypoplasia of the epiglottis Aplasia/Hypoplasia of the eyebrow Broad hallux Hallux valgus Spastic diplegia Overlapping toe Radial deviation of finger Unilateral renal agenesis Urticaria Radioulnar synostosis Atrioventricular block Hypoplasia of the radius Velopharyngeal insufficiency Hemifacial hypoplasia Schizophrenia Myalgia Purpura Abnormality of dental enamel Hypocalcemia Specific learning disability Gastrointestinal hemorrhage Asthma Carious teeth Autoimmunity Telecanthus Anxiety Arthritis Gastroesophageal reflux Short distal phalanx of the thumb Polyhydramnios Autism Constipation Obesity Long philtrum Splenomegaly Intellectual disability, mild Short neck Hypoplasia of first ribs Sparse lower eyelashes Lower eyelid coloboma Absent toe Hypoplastic areola



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