Failure to thrive, and Choanal atresia

Diseases related with Failure to thrive and Choanal atresia

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

Top matches:

Medium match DIAMOND-BLACKFAN ANEMIA 10; DBA10

Diamond-Blackfan anemia (DBA) is an inherited red blood cell aplasia that usually presents in the first year of life. The main features are normochromic macrocytic anemia, reticulocytopenia, and nearly absent erythroid progenitors in the bone marrow. Patients show growth retardation, and approximately 30 to 50% have craniofacial, upper limb, heart, and urinary system congenital malformations. The majority of patients have increased mean corpuscular volume, elevated erythrocyte adenosine deaminase activity, and persistence of hemoglobin F. However, some DBA patients do not exhibit these findings, and even in the same family, symptoms can vary between affected family members (summary by Landowski et al., 2013).For a discussion of genetic heterogeneity of Diamond-Blackfan anemia, see DBA1 (OMIM ).

Related symptoms:

Short stature
Hearing impairment
Growth delay
Failure to thrive
Micrognathia

SOURCES: OMIM MESH MENDELIAN

More info about DIAMOND-BLACKFAN ANEMIA 10; DBA10

Medium match CROUZON SYNDROME-ACANTHOSIS NIGRICANS SYNDROME

Crouzon syndrome with acanthosis nigricans (CAN) is a very rare, clinically heterogeneous form of faciocraniostenosis with Crouzon-like features and premature synostosis of cranial sutures (Crouzon disease, see this term), associated with acanthosis nigricans (AN; see this term).

CROUZON SYNDROME-ACANTHOSIS NIGRICANS SYNDROME Is also known as crouzon-dermoskeletal syndrome|crouzonodermoskeletal syndrome

Related symptoms:

Short stature
Hypertelorism
Failure to thrive
Strabismus
Cleft palate

SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about CROUZON SYNDROME-ACANTHOSIS NIGRICANS SYNDROME

Medium match OSTEOGLOSPHONIC DYSPLASIA

Osteoglophonic dwarfism (OGD) is characterized by dwarfism, severe craniofacial abnormalities and multiple unerupted teeth.

OSTEOGLOSPHONIC DYSPLASIA Is also known as osteoglophonic dwarfism

Related symptoms:

Intellectual disability
Scoliosis
Hypertelorism
Failure to thrive
Micrognathia

SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about OSTEOGLOSPHONIC DYSPLASIA

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Other less relevant matches:

Medium 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

Medium match TREACHER-COLLINS SYNDROME

Treacher-Collins syndrome is a congenital disorder of craniofacial development characterized by bilateral symmetrical oto-mandibular dysplasia without abnormalities of the extremities, and associated with several head and neck defects.

TREACHER-COLLINS SYNDROME Is also known as franceschetti-klein syndrome|mandibulofacial dysostosis without limb anomalies

Related symptoms:

Global developmental delay
Hypertelorism
Failure to thrive
Micrognathia
Strabismus

SOURCES: ORPHANET MENDELIAN

More info about TREACHER-COLLINS SYNDROME

Medium match OROFACIODIGITAL SYNDROME TYPE 4

Oral-facial-digital syndrome, type 4 is characterized by lingual hamartoma, postaxial polysyndactyly of hands and feet, and mesomelic shortening of the legs with supinate equinovarus feet.

Related symptoms:

Intellectual disability
Global developmental delay
Short stature
Hearing impairment
Microcephaly

SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about OROFACIODIGITAL SYNDROME TYPE 4

Medium match SHPRINTZEN-GOLDBERG SYNDROME

Shprintzen-Goldberg syndrome (SGS) is a very rare genetic disorder characterized by craniosynostosis, craniofacial and skeletal abnormalities, marfanoid habitus, cardiac anomalies, neurological abnormalities, and intellectual disability.

SHPRINTZEN-GOLDBERG SYNDROME Is also known as sgs|marfanoid craniosynostosis syndrome|craniosynostosis with arachnodactyly and abdominal hernias|marfanoid disorder with craniosynostosis, type i

Related symptoms:

Intellectual disability
Global developmental delay
Generalized hypotonia
Microcephaly
Scoliosis

SOURCES: OMIM ORPHANET MENDELIAN

More info about SHPRINTZEN-GOLDBERG SYNDROME

Medium match LENZ-MAJEWSKI HYPEROSTOTIC DWARFISM

Lenz-Majewski hyperostotic dwarfism is an extremely rare syndrome associating dwarfism, characteristic facial appearance, cutis laxa and progressive bone sclerosis.

LENZ-MAJEWSKI HYPEROSTOTIC DWARFISM Is also known as lenz-majewski syndrome

Related symptoms:

Intellectual disability
Global developmental delay
Short stature
Generalized hypotonia
Microcephaly

SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about LENZ-MAJEWSKI HYPEROSTOTIC DWARFISM

Medium match VACTERL/VATER ASSOCIATION

VACTERL/VATER is an association of congenital malformations typically characterized by the presence of at least three of the following: vertebral defects, anal atresia, cardiac defects, tracheo-esophageal fistula, renal anomalies, and limb abnormalities.

VACTERL/VATER ASSOCIATION Is also known as vacterl association|vater association

Related symptoms:

Intellectual disability
Global developmental delay
Scoliosis
Growth delay
Failure to thrive

SOURCES: ORPHANET OMIM MENDELIAN

More info about VACTERL/VATER ASSOCIATION

Medium match ICHTHYOSIS FOLLICULARIS-ALOPECIA-PHOTOPHOBIA 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

Top 5 symptoms//phenotypes associated to Failure to thrive and Choanal atresia

Symptoms // Phenotype	% cases
Cleft palate	Very Common - Between 80% and 100% cases
Short stature	Common - Between 50% and 80% cases
Cryptorchidism	Common - Between 50% and 80% cases
Hypertelorism	Common - Between 50% and 80% cases
Conductive hearing impairment	Common - Between 50% and 80% cases

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Other less frequent symptoms

Patients with Failure to thrive and Choanal atresia. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases

Global developmental delay

Uncommon Symptoms - Between 30% and 50% cases

Frontal bossing

Common Symptoms - More than 50% cases

Intellectual disability

Uncommon Symptoms - Between 30% and 50% cases

Micrognathia Scoliosis Intrauterine growth retardation Patent ductus arteriosus High palate Growth delay Hypoplasia of the maxilla Downslanted palpebral fissures Brachydactyly Feeding difficulties Hydrocephalus Strabismus Microcephaly Inguinal hernia Proptosis Hernia Severe short stature Low-set ears Respiratory distress Malar flattening Hearing impairment Hypospadias Midface retrusion Posteriorly rotated ears Bowing of the long bones Absent eyelashes Abnormality of the dentition Camptodactyly Specific learning disability Delayed skeletal maturation Muscular hypotonia Abnormality of dental enamel Submucous cleft hard palate Cerebral cortical atrophy Bifid uvula High, narrow palate Pulmonary hypoplasia Finger syndactyly Camptodactyly of finger Abnormality of the kidney Polydactyly Abnormality of cardiovascular system morphology Agenesis of corpus callosum Talipes equinovarus Renal dysplasia Rectovaginal fistula Laryngomalacia Retrognathia Cloverleaf skull Syndactyly Microtia Abnormal form of the vertebral bodies Ventricular septal defect Respiratory insufficiency Brachycephaly Craniosynostosis

Rare Symptoms - Less than 30% cases

Increased intracranial pressure Erythroderma Hammertoe Ectrodactyly Blepharitis High forehead Heat intolerance Cerebral cortical hemiatrophy Perineal fistula Abnormal nasolacrimal system morphology Subcortical cerebral atrophy Hyperconvex fingernails Kyphosis Abnormal facial shape Generalized hypotonia Ventriculomegaly Conjunctivitis Small nail Oral cleft Cleft upper lip Palmoplantar keratoderma Umbilical hernia Ectodermal dysplasia Prominent forehead Hypoplastic fingernail Anteriorly placed anus Abnormal heart morphology Split hand Dilatation Hypohidrosis Atrial septal defect Microphthalmia Occipital encephalocele Skeletal dysplasia Visual impairment Respiratory tract infection Interphalangeal joint contracture of finger Recurrent respiratory infections Ectopic kidney Atresia of the external auditory canal Congenital diaphragmatic hernia Ambiguous genitalia Talipes Supernumerary ribs Anal atresia Oligohydramnios Hydronephrosis Postaxial polydactyly Postaxial hand polydactyly Anemia Pectus excavatum Abnormality of the ribs Ptosis Unilateral renal agenesis Hypotrichosis Wide mouth Hypoplasia of penis Encephalocele Preauricular skin tag Abnormality of the hair Bifid scrotum Omphalocele Tracheoesophageal fistula Abnormality of the vertebral column Preaxial hand polydactyly Multicystic kidney dysplasia Hemivertebrae Abnormal vertebral morphology Abnormality of the outer ear Toe syndactyly Myopia Nail dystrophy Mandibular prognathia Shallow orbits Intestinal malrotation Hypoplastic toenails Scarring Reduced number of teeth Plagiocephaly Microglossia Limb undergrowth Short palm Platyspondyly Protruding ear Dental malocclusion Chordee Short metacarpal Epidermal acanthosis Short nose Short neck Anteverted nares Hypoplasia of dental enamel Arnold-Chiari malformation Large fontanelles Abnormal sacrum morphology Abnormality of the sternum Abnormality of the metacarpal bones Choanal stenosis Joint hyperflexibility Abnormality of the metaphysis Renal agenesis Narrow mouth Wide nasal bridge Low-set, posteriorly rotated ears Macrotia Absent septum pellucidum Missing ribs Alopecia Hyperkeratosis Abnormality of the nasopharynx Joint laxity Dry skin Cleft lip Sparse hair Progressive sclerosis of skull base Increased bone mineral density Lumbar kyphoscoliosis Exodeviation Macrocephaly Limitation of joint mobility Delayed eruption of teeth Elbow flexion contracture Kyphoscoliosis Thick vermilion border Prominent scalp veins Carious teeth Broad forehead Facial hyperostosis Stiff finger Hallux varus Minimal subcutaneous fat Hip dysplasia Thin skin Abnormality of finger Macroglossia Progeroid facial appearance Facial palsy Intellectual disability, moderate Dysphagia Osteopetrosis Short toe Proximal symphalangism of hands Premature skin wrinkling C1-C2 vertebral abnormality Sensorineural hearing impairment Congestive heart failure Generalized osteosclerosis Proximal symphalangism Cutis marmorata Cranial hyperostosis Sclerosis of skull base Delayed eruption of permanent teeth Lacrimal duct stenosis Humeroradial synostosis Epispadias External genital hypoplasia Short middle phalanx of finger Limited elbow extension Abnormal cortical bone morphology Flared metaphysis Delayed cranial suture closure Aplastic clavicle Symphalangism affecting the phalanges of the hand Diaphyseal thickening Nasolacrimal duct obstruction Femoral hernia Hyperostosis Aplasia/Hypoplasia of the middle phalanges of the hand Hyperextensibility of the finger joints Aplasia/Hypoplasia of the skin Intellectual disability, mild Prematurely aged appearance Thickened calvaria Knee flexion contracture Broad ribs Calvarial hyperostosis Cutis laxa Cutaneous syndactyly Relative macrocephaly Aplasia of the middle phalanx of the hand Prominent superficial veins Reduced subcutaneous adipose tissue Dermal atrophy Redundant skin Hypogonadism Absent axillary hair Abnormality of the penis Elbow ankylosis Broad clavicles Aplasia/Hypoplasia of the radius Pneumonia Nail dysplasia Keratitis Intestinal obstruction Psoriasiform dermatitis Scaling skin Urticaria Abnormality of the hand Opacification of the corneal stroma Recurrent bacterial infections Abnormality of the nail Aganglionic megacolon Eczema Brain atrophy Hydroureter Ichthyosis Astigmatism Papule Hip dislocation Corneal opacity Erythema Developmental regression Mental deterioration Photophobia Hyperhidrosis Dementia Cerebellar hypoplasia Absent eyebrow Mixed hearing impairment Immunodeficiency Oxycephaly Ichthyosis follicularis Abnormal pelvis bone morphology Thin fingernail Scleritis Hypoplasia of the bladder Paronychia Episcleritis Abnormality of temperature regulation Corneal scarring Abnormality of the upper urinary tract Cheilitis Alopecia universalis Thin eyebrow Congenital ichthyosiform erythroderma Alopecia totalis Olivopontocerebellar atrophy Recurrent corneal erosions Follicular hyperkeratosis Corneal erosion Abnormal eyelid morphology Abnormal eyelash morphology Alopecia of scalp Parakeratosis Uveitis Oligodactyly Atonic seizures Recurrent infections Intellectual disability, severe Polyhydramnios Hypoplasia of the radius Wheezing Transposition of the great arteries Non-midline cleft lip Vertebral segmentation defect Hypoplastic left heart Right bundle branch block Bundle branch block Dextrocardia Triphalangeal thumb Radioulnar synostosis Preaxial polydactyly Tachypnea Abdominal wall muscle weakness Spina bifida Situs inversus totalis Short thumb Recurrent urinary tract infections Abnormality of the genital system Tetralogy of Fallot Premature birth Vesicoureteral reflux Tachycardia Facial asymmetry Abnormal cardiac septum morphology Postnatal growth retardation Absent radius Anencephaly Hypoplasia of the corpus callosum Abnormality of the intervertebral disk Flexion contracture Nystagmus Seizures Patent urachus Asymmetric crying face Abnormal tracheobronchial morphology Potter facies Abnormality of the gallbladder Hemifacial hypoplasia Absence of the sacrum Anorectal anomaly Abnormality of the urethra Lower limb undergrowth Esophageal atresia Vertebral clefting Laryngeal stenosis Tethered cord Cavernous hemangioma Ureteropelvic junction obstruction Abnormality of female internal genitalia Abnormality of the pancreas Atelectasis Duodenal atresia Tracheal stenosis Single umbilical artery Aplasia/Hypoplasia of the lungs Cranial asymmetry Aplasia/Hypoplasia of the tibia Atlantoaxial dislocation Hoarse voice Sparse body hair Agenesis of permanent teeth Supernumerary nipple Anonychia Anhidrosis 2-3 toe syndactyly Brittle hair Widely spaced teeth Sparse eyelashes Increased body weight Sinusitis Pustule Hyperpigmentation of the skin Recurrent otitis media Inflammatory abnormality of the skin Fine hair Microdontia Otitis media Sepsis Hypodontia Abnormality of the nervous system Micropenis Keratoconjunctivitis sicca Chronic sinusitis Multiple unerupted teeth 3-4 toe syndactyly Dysphasia Open bite Abnormality of dental morphology Scrotal hypoplasia Low anterior hairline Iris coloboma Cataract Otitis externa Vaginal dryness Fibrous syngnathia Bilateral choanal atresia Trismus Lacrimal duct atresia Patchy alopecia Oval face Hyperconvex nail Ankyloblepharon Orthokeratosis Plantar hyperkeratosis Skin erosion Selective tooth agenesis Conical tooth Pili torti Pain Unerupted tooth Glossoptosis Migraine Craniofacial dysostosis Inflammatory abnormality of the eye Turricephaly Proportionate short stature Aplasia/Hypoplasia of the cerebellum Melanocytic nevus Glomerulonephritis Abnormal palate morphology Acanthosis nigricans Convex nasal ridge Nevus Bicoronal synostosis Hypopigmentation of the skin Renal insufficiency Optic atrophy Mandibulofacial dysostosis Reticulocytopenia Cleft soft palate Increased mean corpuscular volume Broad neck Macrocytic anemia Jaundice Brachyturricephaly Membranous nephropathy Pseudoarthrosis Broad palm Broad metacarpals Broad metatarsal Broad phalanx Abnormal bone ossification Renal phosphate wasting Nasal obstruction Spondyloepimetaphyseal dysplasia Hypoplastic scapulae Abnormality of the clavicle Broad foot Hypophosphatemia Short uvula Failure to thrive in infancy Increased susceptibility to fractures Short metatarsal Disproportionate short-limb short stature Rhizomelia Short phalanx of finger Short foot Depressivity Long philtrum Depressed nasal bridge Delayed speech and language development Facial cleft Blepharospasm Dural ectasia Dolichocephaly Wide anterior fontanel Amblyopia Mitral regurgitation Blue sclerae Mitral valve prolapse Joint hypermobility Arachnodactyly Genu valgum Abnormality of the foot Narrow chest Pectus carinatum Narrow palate Joint stiffness Abnormality of the pinna Feeding difficulties in infancy Apnea Telecanthus Pes planus Osteopenia Gastroesophageal reflux Constipation Abnormality of the skeletal system Joint contracture of the hand Aortic regurgitation Absent crus of helix Arnold-Chiari type I malformation Arterial tortuosity Gastroparesis Lateral clavicle hook Dermal translucency Abnormal aortic valve morphology Aplasia/Hypoplasia of the abdominal wall musculature Spondylolisthesis Communicating hydrocephalus Genu recurvatum Obstructive sleep apnea Aortic root aneurysm Infantile muscular hypotonia Dislocated radial head Thin ribs Fragile skin Slender finger Disproportionate tall stature Metatarsus adductus Elbow dislocation Metaphyseal widening Aortic aneurysm Ectopia lentis Hyperextensible skin Cognitive impairment Monorchism Hypoplasia of the zygomatic bone Cerebral atrophy Short ribs Hepatic fibrosis Depressed nasal ridge Decreased testicular size Renal cyst Wide nose Micromelia Abnormality of eye movement Short philtrum Clinodactyly Epicanthus Renal hypoplasia/aplasia Short face Narrow internal auditory canal Branchial fistula Multiple enchondromatosis Abnormality of bone mineral density Abnormality of the adrenal glands Abnormality of the middle ear Thyroid hypoplasia Hypoplasia of the thymus Eyelid coloboma Joint dislocation Genu varum Microtia, third degree Accessory oral frenulum Oral synechia Aplasia/Hypoplasia of the mandible Bilateral lung agenesis Rectal atresia Absent testis Tongue nodules Hamartoma of tongue Lobulated tongue Abnormal oral frenulum morphology Abnormality of the gingiva Abnormal oral mucosa morphology Hand polydactyly Porencephalic cyst Abnormality of the tongue Short tibia Median cleft lip Foot polydactyly Primary adrenal insufficiency Hamartoma Abnormal joint morphology Short finger Abnormality of the ear Mesomelia Unilateral chest hypoplasia

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