Feeding difficulties, and Choanal atresia

Diseases related with Feeding difficulties and Choanal atresia

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

Top matches:

Choanal atresia - deafness - cardiac defects - dysmorphism syndrome, also known as Burn-McKeown syndrome, is an extremely rare multiple congenital anomaly syndrome characterized by bilateral choanal atresia (see this term) associated with a characteristic cranio-facial dysmorphism (hypertelorism with narrow palpebral fissures, coloboma of inferior eyelid (see this term) with presence of eyelashes medial to the defect, prominent nasal bridge, thin lips, prominent ears), that can be accompanied by hearing loss, unilateral cleft lip, preauricular tags, cardiac septal defects and anomalies of the kidneys. The features of this syndrome overlaps considerably with those of the CHARGE syndrome (see this term).

CHOANAL ATRESIA-HEARING LOSS-CARDIAC DEFECTS-CRANIOFACIAL DYSMORPHISM SYNDROME Is also known as oculootofacial dysplasia|burn-mckeown syndrome|oofd

Related symptoms:

  • Short stature
  • Hearing impairment
  • Hypertelorism
  • Micrognathia
  • Sensorineural hearing impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about CHOANAL ATRESIA-HEARING LOSS-CARDIAC DEFECTS-CRANIOFACIAL DYSMORPHISM SYNDROME

Van der Woude syndrome (VWS) is a dominantly inherited developmental disorder characterized by pits and/or sinuses of the lower lip, and cleft lip and/or cleft palate (CL/P, CP). It is the most common cleft syndrome. Genetic Heterogeneity of van der Woude SyndromeAlso see VWS2 (OMIM ), caused by mutation in the GRHL3 gene (OMIM ) on chromosome 1p36.

VAN DER WOUDE SYNDROME 1; VWS1 Is also known as cleft lip and/or palate with mucous cysts of lower lip|pit|lps|lip-pit syndrome|vdws

Related symptoms:

  • Scoliosis
  • Micrognathia
  • Cleft palate
  • Cryptorchidism
  • Flexion contracture


SOURCES: OMIM MENDELIAN

More info about VAN DER WOUDE SYNDROME 1; VWS1

Treacher Collins syndrome is a disorder of craniofacial development. The features include antimongoloid slant of the eyes, coloboma of the lid, micrognathia, microtia and other deformity of the ears, hypoplastic zygomatic arches, and macrostomia. Conductive hearing loss and cleft palate are often present (Dixon, 1996). Genetic Heterogeneity of Treacher Collins SyndromeTreacher Collins syndrome-2 (TCS2 ) is caused by mutation in the POLR1D gene (OMIM ) on chromosome 13q12. Treacher Collins syndrome-3 (TCS3 ) is caused by mutation in the POLR1C gene (OMIM ) on chromosome 6p21.

TREACHER COLLINS SYNDROME 1; TCS1 Is also known as mfd1|tcs|treacher collins syndrome|tcof|mandibulofacial dysostosis|treacher collins-franceschetti syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hearing impairment
  • Microcephaly
  • Hypertelorism


SOURCES: ORPHANET OMIM MENDELIAN

More info about TREACHER COLLINS SYNDROME 1; TCS1

Other less relevant matches:

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

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 APERT SYNDROME

Apert syndrome (AS) is a frequent form of acrocephalosyndactyly (see this term), a group of inherited congenital malformation disorders, characterized by craniosynostosis (see this term), midface hypoplasia, and finger and toe anomalies and/or syndactyly.

APERT SYNDROME Is also known as acrocephalosyndactyly type 1|acrocephalosyndactyly, type i|acs i|acs1

Related symptoms:

  • Intellectual disability
  • Hypertelorism
  • Strabismus
  • Sensorineural hearing impairment
  • Cleft palate


SOURCES: ORPHANET MENDELIAN

More info about APERT SYNDROME

Postaxial acrofacial dysostosis (POADS) is a type of acrofacial dysostosis (see this term) characterised by mandibular and malar hypoplasia, small and cup-shaped ears, lower lid ectropion, and symmetrical postaxial limb deficiencies with absence of the fifth digital ray and ulnar hypoplasia.

POSTAXIAL ACROFACIAL DYSOSTOSIS Is also known as genee-wiedemann syndrome|miller syndrome|mandibulfacial dysostosis with postaxial limb anomalies|postaxial acrodysostosis|poads|acrofacial dysostosis, genee-wiedmann type

Related symptoms:

  • Hearing impairment
  • Growth delay
  • Micrognathia
  • Strabismus
  • Cleft palate


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about POSTAXIAL ACROFACIAL DYSOSTOSIS

Mandibulofacial dysostosis-microcephaly syndrome is a rare genetic multiple malformation disorder characterized by malar and mandibular hypoplasia, microcephaly, ear malformations with associated conductive hearing loss, distinctive facial dysmorphism, developmental delay, and intellectual disability.

MANDIBULOFACIAL DYSOSTOSIS-MICROCEPHALY SYNDROME Is also known as mfdm syndrome|growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate|mfdm|mandibulofacial dysostosis, guion-almeida type|mandibulofacial dysostosis with microcephaly

Related symptoms:

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


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about MANDIBULOFACIAL DYSOSTOSIS-MICROCEPHALY SYNDROME

Cerebrofacioarticular syndrome is a rare multiple congenital anomalies syndrome characterized by mild to severe intellectual disability, a distinctive facial gestalt (blepharophimosis, maxillary hypoplasia, telecanthus, microtia and atresia of the external auditory meatus) as well as skeletal and articular abnormalities (e.g. camptodactyly of the fingers, cutaneous syndactyly, talipes equinovarus, flexion contractures of the proximal interphalangeal joints, hip or elbow subluxation, joint laxity). Affected individuals also present neonatal hypotonia, variable respiratory manifestations, chronic feeding difficulties and gray matter heterotopia.

CEREBROFACIOARTICULAR SYNDROME Is also known as cerebrofacioarticular syndrome|van maldergem syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Hearing impairment
  • Scoliosis


SOURCES: OMIM ORPHANET MENDELIAN

More info about CEREBROFACIOARTICULAR SYNDROME

Female-restricted X-linked syndromic mental retardation-99 is an X-linked dominant neurodevelopmental disorder characterized by delayed psychomotor development and mild to moderate intellectual disability. Affected females can have a wide range of additional congenital anomalies, including scoliosis, postaxial polydactyly, mild cardiac or urogenital anomalies, dysmorphic facial features, and mild structural brain abnormalities (summary by Reijnders et al., 2016).

X-LINKED FEMALE RESTRICTED FACIAL DYSMORPHISM-SHORT STATURE-CHOANAL ATRESIA-INTELLECTUAL DISABILITY Is also known as x-linked facial dysmorphism-short stature-choanal atresia-intellectual disability syndrome limited to females

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about X-LINKED FEMALE RESTRICTED FACIAL DYSMORPHISM-SHORT STATURE-CHOANAL ATRESIA-INTELLECTUAL DISABILITY

Top 5 symptoms//phenotypes associated to Feeding difficulties and Choanal atresia

Symptoms // Phenotype % cases
Cleft palate Very Common - Between 80% and 100% cases
Conductive hearing impairment Common - Between 50% and 80% cases
Hearing impairment Common - Between 50% and 80% cases
Micrognathia Common - Between 50% and 80% cases
Hypoplasia of the maxilla Common - Between 50% and 80% cases

Other less frequent symptoms

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

Common Symptoms - More than 50% cases

Malar flattening

Uncommon Symptoms - Between 30% and 50% cases

Downslanted palpebral fissures Short stature Microtia Bifid uvula Respiratory distress Strabismus Hypertelorism Intellectual disability Wide nasal bridge Abnormality of cardiovascular system morphology Midface retrusion Cryptorchidism Ventricular septal defect Cleft upper lip Abnormality of the dentition Atresia of the external auditory canal Cleft lip Coloboma Finger syndactyly Toe syndactyly Mandibulofacial dysostosis Visual impairment Ptosis Facial asymmetry Patent ductus arteriosus Dental malocclusion Proptosis Respiratory insufficiency Scoliosis Syndactyly Global developmental delay Short palpebral fissure Anal atresia Sensorineural hearing impairment Atrial septal defect Growth delay Preauricular skin tag Abnormal cardiac septum morphology Feeding difficulties in infancy Narrow mouth Low-set ears Seizures

Rare Symptoms - Less than 30% cases

Choanal stenosis Agenesis of permanent teeth Joint laxity Abnormality of the outer ear Sparse eyelashes Camptodactyly Conical tooth Narrow forehead Esophageal atresia Wide mouth Abnormal heart morphology Large fontanelles Depressed nasal bridge Ventriculomegaly Flat face Cataract Hypoplasia of the corpus callosum Optic atrophy Generalized hypotonia Convex nasal ridge Micropenis Delayed speech and language development Hypospadias Telecanthus Abnormality of the pinna Bulbous nose Cloverleaf skull Everted lower lip vermilion Arnold-Chiari malformation Abnormal facial shape Failure to thrive Cupped ear Radioulnar synostosis Brachycephaly Posteriorly rotated ears Supernumerary nipple Low-set, posteriorly rotated ears Hydrocephalus Frontal bossing Epicanthus Brachyturricephaly Glossoptosis Microcephaly 2-3 toe syndactyly Hypodontia Oral cleft Thin upper lip vermilion Lower eyelid coloboma Sacral dimple Eyelid coloboma Abnormal palate morphology Split hand Renal dysplasia Renal hypoplasia Prominent nose Blepharophimosis Protruding ear Mandibular prognathia Short nose Otitis media Bilateral choanal atresia Non-midline cleft lip Ankyloblepharon Fibrous syngnathia Narrow chest Volvulus Short thumb Congenital hip dislocation Abnormal dermatoglyphics Hypoplasia of the radius Pyloric stenosis Hypotelorism Ectropion Cutaneous finger syndactyly Hypoplasia of the ulna Anencephaly Ectropion of lower eyelids Abnormality of the middle ear Interphalangeal joint contracture of finger Dandy-Walker malformation Acrania Supernumerary vertebrae Midgut malrotation Wide anterior fontanel Hip dysplasia Heterotopia Tapered finger Anteriorly placed anus Anteverted nares Depressed nasal ridge Premature birth Intestinal malrotation Ectopic anus Tented upper lip vermilion Abnormality of thyroid physiology Delayed eruption of teeth Flared nostrils Broad thumb Lower limb asymmetry Narrow palate Vertebral segmentation defect Absent septum pellucidum Ovarian neoplasm Aplasia/Hypoplasia of the thumb Corneal erosion Morphological abnormality of the semicircular canal Short foot Abnormal cortical gyration Cervical C5/C6 vertebrae fusion Acrobrachycephaly Self-injurious behavior Cortical gyral simplification Pectus excavatum Abnormality of the genitourinary system Abnormality of the kidney Postnatal growth retardation Camptodactyly of finger Abnormality of the foot Hypertrichosis Short neck Absent speech Small hand High palate Prominent forehead Moderate global developmental delay Pes cavus Tracheomalacia Recurrent respiratory infections Accessory oral frenulum Downturned corners of mouth Prominent glabella Underdeveloped tragus Morphological abnormality of the middle ear Absent tragus Genu recurvatum Abnormality of the skeletal system Polydactyly Cerebellar hypoplasia Talipes equinovarus Long philtrum Clinodactyly Autism Osteopenia Skeletal dysplasia Myopia Neonatal hypotonia Short 4th metacarpal Short fourth metatarsal Irregular dentition Short clavicles Hydronephrosis Wide cranial sutures Bicuspid aortic valve Delayed skeletal maturation Upslanted palpebral fissure Pachygyria Postaxial polydactyly Astigmatism Pulmonic stenosis Smooth philtrum Hypermetropia Anal stenosis Delayed myelination Postnatal microcephaly Progressive microcephaly Deep philtrum Abnormal renal morphology Trigonocephaly Overfolded helix Proximal placement of thumb Preaxial hand polydactyly Tracheoesophageal fistula Hip dislocation Slender finger Pierre-Robin sequence Stenosis of the external auditory canal Abnormality of the antihelix Skin tags Large earlobe Micromelia Ectodermal dysplasia Broad forehead Anotia Nonketotic hyperglycinemia Lip pit Lower lip pit Intercrural pterygium Microphthalmia Visual loss Apnea Iris coloboma Encephalocele Sleep apnea Reduced number of teeth Obstructive sleep apnea Abnormality of the nose Cleft soft palate Bilateral microphthalmos Ankyloglossia Lacrimal duct stenosis Accessory spleen Upper eyelid coloboma Sparse lower eyelashes Ectopic adrenal gland Widely spaced primary teeth Projection of scalp hair onto lateral cheek Hypoplasia of the pharynx Abnormal parotid gland morphology Brachydactyly Renal insufficiency High forehead Craniosynostosis Dry skin Popliteal pterygium Hypoplastic labia majora Nevus Unilateral cleft lip Abnormality of metabolism/homeostasis Hernia Inguinal hernia Abnormality of the eye Short philtrum Prominent nasal bridge Thin vermilion border Underdeveloped nasal alae Narrow palpebral fissure Abnormality of vision Mixed hearing impairment External ear malformation Hypomimic face Secundum atrial septal defect Median cleft palate Bifid scrotum Abnormality of the ribs Pterygium Scrotal hypoplasia Cerebral palsy Generalized hirsutism Abnormality of the nail Abnormality of the genital system Ambiguous genitalia Bilateral choanal atresia/stenosis Specific learning disability Falls Neurological speech impairment Joint stiffness Difficulty walking Flexion contracture Hypopigmentation of the skin Migraine Agenesis of corpus callosum Absent eyelashes Hoarse voice Increased body weight Conjunctivitis Widely spaced teeth Brittle hair Erythroderma Hammertoe Anhidrosis Anonychia Sparse body hair Keratoconjunctivitis sicca Ectrodactyly Pustule Blepharitis Chronic sinusitis Hyperpigmentation of the skin Oval face Hypertension Otitis externa Vaginal dryness 3-4 toe syndactyly Lacrimal duct atresia Patchy alopecia Hyperconvex nail Trismus Orthokeratosis Plantar hyperkeratosis Skin erosion Selective tooth agenesis Pili torti Heat intolerance Sinusitis Hypohidrosis Short metacarpal Bicoronal synostosis Epidermal acanthosis Abnormal form of the vertebral bodies Acanthosis nigricans Abnormality of the metacarpal bones Increased intracranial pressure Laryngomalacia Glomerulonephritis Melanocytic nevus Aplasia/Hypoplasia of the cerebellum Proportionate short stature Turricephaly Inflammatory abnormality of the eye Craniofacial dysostosis Abnormal sacrum morphology Membranous nephropathy Recurrent otitis media Hypotrichosis Inflammatory abnormality of the skin Fine hair Small nail Microdontia Sepsis Palmoplantar keratoderma Nail dystrophy Short uvula Scarring Sparse hair Abnormality of the nervous system Hyperkeratosis Alopecia Pain Unilateral breast hypoplasia


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