Abnormal facial shape, and Choanal atresia

Diseases related with Abnormal facial shape and Choanal atresia

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


Top matches:

Low match TREACHER COLLINS SYNDROME 2; TCS2


Treacher Collins syndrome is a disorder of craniofacial development characterized by a combination of bilateral downward slanting of the palpebral fissures, colobomas of the lower eyelids with a paucity of eyelashes medial to the defect, hypoplasia of the facial bones, cleft palate, malformation of the external ears, atresia of the external auditory canals, and bilateral conductive hearing loss (Dauwerse et al., 2011).For additional phenotypic information and a discussion of genetic heterogeneity of Treacher Collins syndrome, see TCS1 (OMIM ).

Related symptoms:

  • Hearing impairment
  • Micrognathia
  • Cleft palate
  • Downslanted palpebral fissures
  • Malar flattening


SOURCES: OMIM MENDELIAN

More info about TREACHER COLLINS SYNDROME 2; TCS2

Low match BONE MARROW FAILURE SYNDROME 4; BMFS4


BMFS4 is an autosomal recessive disorder characterized by early-onset anemia, leukopenia, and decreased B cells, resulting in the necessity for red cell transfusion and sometimes causing an increased susceptibility to infection. Some patients may have thrombocytopenia or variable additional nonhematologic features, such as facial dysmorphism, skeletal anomalies, and mild developmental delay. Bone marrow transplantation is curative (summary by Bahrami et al., 2017).For a discussion of genetic heterogeneity of BMFS, see BMFS1 (OMIM ).

Related symptoms:

  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Microcephaly
  • Abnormal facial shape


SOURCES: OMIM MENDELIAN

More info about BONE MARROW FAILURE SYNDROME 4; BMFS4

Low match SWEENEY-COX SYNDROME; SWCOS


Sweeney-Cox syndrome is characterized by striking facial dysostosis, including hypertelorism, deficiencies of the eyelids and facial bones, cleft palate/velopharyngeal insufficiency, and low-set cupped ears (Kim et al., 2017).

Related symptoms:

  • Global developmental delay
  • Hearing impairment
  • Hypertelorism
  • Micrognathia
  • Abnormal facial shape


SOURCES: OMIM MENDELIAN

More info about SWEENEY-COX SYNDROME; SWCOS

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Other less relevant matches:

Low match ABRUZZO-ERICKSON SYNDROME


Abruzzo-Erickson syndrome is a multiple congenital anomalies syndrome characterized by a cleft palate, ocular coloboma, hypospadias, mixed conductive-sensorineural hearing loss, short stature, and radio-ulnar synostosis.

ABRUZZO-ERICKSON SYNDROME Is also known as cleft palate-coloboma-deafness syndrome|charge-like syndrome|charge-like syndrome, x-linked

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Sensorineural hearing impairment
  • Cleft palate


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about ABRUZZO-ERICKSON SYNDROME

Low match BLEPHARO-CHEILO-ODONTIC SYNDROME


Blepharo-cheilo-odontic syndrome is an ectodermal dysplasia syndrome characterized by the association of abnormalities of the eyelids, lips, and teeth.

BLEPHARO-CHEILO-ODONTIC SYNDROME Is also known as lagophthalmia with bilateral cleft lip and palate|clefting, ectropion, and conical teeth|ectropion, inferior, with cleft lip and/or palate|lagophthalmia-cleft lip and palate syndrome|bcd syndrome|blepharocheilodontic syndrome|elschnig syndrome|bcds|elschi

Related symptoms:

  • Hypertelorism
  • Neoplasm
  • Abnormal facial shape
  • Cleft palate
  • Blindness


SOURCES: ORPHANET OMIM MENDELIAN

More info about BLEPHARO-CHEILO-ODONTIC SYNDROME

Low match NEONATAL DIABETES-CONGENITAL HYPOTHYROIDISM-CONGENITAL GLAUCOMA-HEPATIC FIBROSIS-POLYCYSTIC KIDNEYS SYNDROME


A syndrome associating neonatal diabetes, congenital hypothyroidism, congenital glaucoma, hepatopathy evolving to fibrosis and polykystic kidneys has been described in two sibs. Minor facial anomalies were also observed. Two other families presented incomplete forms of this syndrome. Mutations in GLIS3 encoding for the transcription factor GLI similar 3 seem to be responsible of the syndrome.

NEONATAL DIABETES-CONGENITAL HYPOTHYROIDISM-CONGENITAL GLAUCOMA-HEPATIC FIBROSIS-POLYCYSTIC KIDNEYS SYNDROME Is also known as ndh syndrome

Related symptoms:

  • Global developmental delay
  • Hearing impairment
  • Growth delay
  • Sensorineural hearing impairment
  • Abnormal facial shape


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about NEONATAL DIABETES-CONGENITAL HYPOTHYROIDISM-CONGENITAL GLAUCOMA-HEPATIC FIBROSIS-POLYCYSTIC KIDNEYS SYNDROME

Low match RENAL TUBULAR DYSGENESIS; RTD


Autosomal recessive renal tubular dysgenesis is a severe disorder of renal tubular development characterized by persistent fetal anuria and perinatal death, probably due to pulmonary hypoplasia from early-onset oligohydramnios (the Potter phenotype) (Gribouval et al., 2005). Absence or paucity of differentiated proximal tubules is the histopathologic hallmark of the disorder and may be associated with skull ossification defects.

RENAL TUBULAR DYSGENESIS; RTD Is also known as primitive renal tubule syndrome

Related symptoms:

  • Intellectual disability
  • Microcephaly
  • Hypertelorism
  • Ventricular septal defect
  • Respiratory insufficiency


SOURCES: OMIM ORPHANET MENDELIAN

More info about RENAL TUBULAR DYSGENESIS; RTD

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 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

Low match CROUZON DISEASE


Crouzon disease is characterized by craniosynostosis and facial hypoplasia.

CROUZON DISEASE Is also known as crouzon craniofacial dysostosis|craniofacial dysostosis, type i|cfd1

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Hearing impairment
  • Hypertelorism


SOURCES: OMIM ORPHANET MENDELIAN

More info about CROUZON DISEASE

Top 5 symptoms//phenotypes associated to Abnormal facial shape and Choanal atresia

Symptoms // Phenotype % cases
Hearing impairment Common - Between 50% and 80% cases
Cleft palate Common - Between 50% and 80% cases
Conductive hearing impairment Common - Between 50% and 80% cases
Hypertelorism Uncommon - Between 30% and 50% cases
Short stature Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Abnormal facial shape and Choanal atresia. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Abnormality of the dentition Intellectual disability Midface retrusion Sensorineural hearing impairment Cleft lip Anal atresia Syndactyly Small nail Respiratory insufficiency Craniosynostosis Flat face Hypoplasia of the maxilla Microtia Toe syndactyly Atresia of the external auditory canal Downslanted palpebral fissures Low-set ears Facial asymmetry Global developmental delay

Rare Symptoms - Less than 30% cases


Hypospadias High forehead Agenesis of corpus callosum Clinodactyly Epicanthus Convex nasal ridge Narrow palate Cloverleaf skull Arnold-Chiari malformation Iris coloboma Atrial septal defect Ventricular septal defect Oral cleft Sparse hair Strabismus Sagittal craniosynostosis Conjunctivitis Sepsis Respiratory failure Hypertension Depressed nasal bridge Conical tooth Visual impairment Finger syndactyly Optic atrophy Frontal bossing Proptosis Mandibular prognathia Ectodermal dysplasia Hypodontia Micrognathia Cleft upper lip Hydrocephalus Hypothyroidism Wide nasal bridge Cutaneous syndactyly Microcephaly Recurrent infections Cerebellar hypoplasia Brachycephaly Narrow mouth Choanal stenosis Coloboma Malar flattening Wide anterior fontanel Cryptorchidism Overfolded helix Abnormality of the skeletal system Absent eyelashes Hoarse voice Skin erosion Increased body weight Selective tooth agenesis Multiple suture craniosynostosis Pili torti Sparse eyelashes Widely spaced teeth Heat intolerance Trismus Chronic sinusitis Erythroderma Brittle hair Pustule Blepharitis Hammertoe 2-3 toe syndactyly Dysgerminoma Anhidrosis Sinusitis Supernumerary nipple Agenesis of permanent teeth Sparse body hair Keratoconjunctivitis sicca Ectrodactyly Anonychia Primary amenorrhea Hyperpigmentation of the skin Hyperkeratosis Anuria Aplasia of the thymus Potter facies Infra-orbital crease Vascular ring Renal magnesium wasting Renotubular dysgenesis Failure to thrive Pain Feeding difficulties Patent ductus arteriosus Alopecia Micropenis Hypohidrosis Abnormality of the nervous system Camptodactyly Scarring Nail dystrophy Hypotrichosis Palmoplantar keratoderma Otitis media Microdontia Fine hair Inflammatory abnormality of the skin Split hand Narrow internal auditory canal Recurrent otitis media Abnormal sacrum morphology Oval face Plantar hyperkeratosis Ectopic anus Bifid uvula Trigonocephaly Broad thumb Large fontanelles Vertebral segmentation defect Absent septum pellucidum Ovarian neoplasm Aplasia/Hypoplasia of the thumb Esophageal atresia Corneal erosion Hypopigmented skin patches Increased intracranial pressure Sleep apnea Torticollis Widely patent fontanelles and sutures Acanthosis nigricans Amblyopia Brachyturricephaly Dental crowding Morphological abnormality of the semicircular canal Cervical C5/C6 vertebrae fusion Acrobrachycephaly Seizures Ptosis Respiratory distress Headache Prominent forehead Delayed puberty Dental malocclusion Delayed eruption of teeth Melanocytic nevus Orthokeratosis Craniofacial dysostosis Ankyloblepharon Hyperconvex nail Amenorrhea Patchy alopecia Lacrimal duct atresia Bilateral choanal atresia 3-4 toe syndactyly Fibrous syngnathia Vaginal dryness Abnormality of the nasopharynx Otitis externa Short upper lip Abnormality of the cervical spine Lambdoidal craniosynostosis Keratitis Ventriculomegaly Gonadoblastoma Abnormality of cardiovascular system morphology Coronal craniosynostosis Abnormality of the skull Feeding difficulties in infancy Turricephaly Papilledema Shallow orbits Scaphocephaly Syringomyelia Broad forehead Gonadal dysgenesis Micromelia Absent gallbladder Cystic renal dysplasia Accessory spleen Abnormal localization of kidney Asplenia Widow's peak Velopharyngeal insufficiency Median cleft palate Upper eyelid coloboma Brachydactyly Macrotia Protruding ear Microcornea Short toe Abnormal palate morphology Radioulnar synostosis Chorioretinal coloboma Ulnar deviation of finger Dimple chin Broad neck Coronal hypospadias Neoplasm Blindness Posteriorly rotated ears Upslanted palpebral fissure Abnormality of the eye Carious teeth Opacification of the corneal stroma Oligodontia Abnormality of vision Reduced number of teeth Ectropion Vertebral fusion Bilateral cleft lip Short columella Short clavicles Myelomeningocele Neurodevelopmental delay Bilateral conductive hearing impairment Cataract Anemia Cardiomyopathy Thrombocytopenia Respiratory tract infection Dry skin Neutropenia Eczema Gingival overgrowth Rhizomelia Lymphopenia Leukopenia Recurrent upper respiratory tract infections Upper limb undergrowth Prominent metopic ridge Talipes Long fingers Bilateral talipes equinovarus Cupped ear Generalized hirsutism Underdeveloped nasal alae Hirsutism Narrow chest Agammaglobulinemia Short philtrum Gastroesophageal reflux Talipes equinovarus Delayed speech and language development High palate Noncompaction cardiomyopathy Abnormal eyelid morphology Bilateral cleft lip and palate Right aortic arch Premature birth Enlarged kidney Hiatus hernia Thoracolumbar scoliosis Esophageal varix Buphthalmos Pancreatic cysts Pancreatic hypoplasia Splenic cyst Renal insufficiency Polyhydramnios Abnormality of the pinna Joint hyperflexibility Pulmonary hypoplasia Nephropathy Hypotension Congenital glaucoma Multiple renal cysts Decreased circulating renin level Proximal tubulopathy Interrupted aortic arch Periventricular leukomalacia Absent nipple Renal tubular dysfunction Adrenal insufficiency Tetralogy of Fallot Preauricular pit Glomerulonephritis Abnormality of the urinary system Bilateral single transverse palmar creases Preauricular skin tag Oligohydramnios Congenital hypothyroidism Portal hypertension High anterior hairline Long philtrum Abnormal hair quantity Distichiasis Unilateral cleft lip Epidermoid cyst Meningoencephalocele Thyroid agenesis Ectropion of lower eyelids Dermoid cyst Euryblepharon Multiple rows of eyelashes Growth delay Hepatomegaly Intrauterine growth retardation Splenomegaly Hernia Polycystic kidney dysplasia Abnormality of the liver Hepatic fibrosis Cholestasis Bilateral sensorineural hearing impairment Hepatitis Renal cyst Cirrhosis Hyperlordosis Pneumonia Abnormality of the kidney Thin upper lip vermilion Umbilical hernia Osteopenia Glaucoma Diabetes mellitus Cartilaginous trachea



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