Cleft palate, and Gastroesophageal reflux
Diseases related with Cleft palate and Gastroesophageal reflux
In the following list you will find some of the most common rare diseases related to Cleft palate and Gastroesophageal reflux that can help you solving undiagnosed cases.
Top matches:
Auriculocondylar syndrome (ARCND), also known as 'question-mark ear syndrome' or 'dysgnathia complex,' is an autosomal dominant craniofacial malformation syndrome characterized by highly variable mandibular anomalies, including mild to severe micrognathia, often with temporomandibular joint ankylosis, cleft palate, and a distinctive ear malformation that consists of separation of the lobule from the external ear, giving the appearance of a question mark. Other frequently described features include prominent cheeks, cupped and posteriorly rotated ears, preauricular tags, and microstomia (summary by Rieder et al., 2012).For a discussion of genetic heterogeneity of auriculocondylar syndrome, see ARCND1 (OMIM ).
Related symptoms:
- Global developmental delay
- Generalized hypotonia
- Hearing impairment
- Micrognathia
- Cleft palate
SOURCES:
OMIM
MENDELIAN
More info about AURICULOCONDYLAR SYNDROME 2; ARCND2
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
EMARDD is a congenital myopathy characterized by proximal and generalized muscle weakness, respiratory difficulties, joint contractures, and scoliosis. More variable features include cleft palate and feeding difficulties. There is variable severity: some patients become ventilator-dependent, never achieve walking, and die in childhood, whereas others have a longer and more favorable course (summary by Logan et al., 2011 and Boyden et al., 2012).
EARLY-ONSET MYOPATHY-AREFLEXIA-RESPIRATORY DISTRESS-DYSPHAGIA SYNDROME Is also known as emardd
Related symptoms:
- Seizures
- Global developmental delay
- Generalized hypotonia
- Scoliosis
- Growth delay
SOURCES:
ORPHANET
OMIM
MENDELIAN
More info about EARLY-ONSET MYOPATHY-AREFLEXIA-RESPIRATORY DISTRESS-DYSPHAGIA SYNDROME
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Other less relevant matches:
Craniolenticulosutural dysplasia (CLSD), also known as Boyadjiev-Jabs syndrome, is characterized by the specific association of large and late-closing fontanels, hypertelorism, early-onset cataract and mild generalized skeletal dysplasia.
CRANIOLENTICULOSUTURAL DYSPLASIA Is also known as boyadjiev-jabs syndrome
Related symptoms:
- Short stature
- Scoliosis
- Hypertelorism
- Failure to thrive
- Abnormal facial shape
SOURCES:
OMIM
ORPHANET
MESH
MENDELIAN
More info about CRANIOLENTICULOSUTURAL DYSPLASIA
Cornelia de Lange syndrome is a multisystem developmental disorder characterized by distinctive facial dysmorphism, pre- and postnatal growth failure, delayed psychomotor development and intellectual disability, hypertrichosis, and sometimes distal limb malformations (summary by Gil-Rodriguez et al., 2015).For a phenotypic description and a discussion of genetic heterogeneity of Cornelia de Lange syndrome, see {122470}.
Related symptoms:
- Intellectual disability
- Global developmental delay
- Short stature
- Hearing impairment
- Microcephaly
SOURCES:
OMIM
MENDELIAN
More info about CORNELIA DE LANGE SYNDROME 3; CDLS3
The Opitz GBBB syndrome is a congenital midline malformation syndrome characterized by hypertelorism, hypospadias, cleft lip/palate, laryngotracheoesophageal abnormalities, imperforate anus, developmental delay, and cardiac defects (So et al., 2005).This disorder was first reported as 2 separate entities, BBB syndrome and G syndrome; subsequent reports of families in which the BBB and G syndromes segregated within a single kindred suggested that they represent a single entity. Genetic HeterogeneitySee also GBBB2 (OMIM ), caused by mutation in the SPECC1L gene (OMIM ) on chromosome 22q11.
OPITZ GBBB SYNDROME, TYPE I; GBBB1 Is also known as opitz bbbg syndrome, type i|opitz syndrome|os|opitz syndrome, x-linked|ogs1|hypertelorism-hypospadias syndrome|osx|telecanthus-hypospadias syndrome|opitz gbbb syndrome, x-linked|bbbg1|hypertelorism with esophageal abnormality and hypospadias|opitz-g syndr
Related symptoms:
- Intellectual disability
- Global developmental delay
- Hypertelorism
- Sensorineural hearing impairment
- Cleft palate
SOURCES:
OMIM
ORPHANET
MENDELIAN
More info about OPITZ GBBB SYNDROME, TYPE I; GBBB1
Top 5 symptoms//phenotypes associated to Cleft palate and Gastroesophageal reflux
Symptoms // Phenotype |
% cases |
Global developmental delay |
Common - Between 50% and 80% cases
|
High palate |
Uncommon - Between 30% and 50% cases
|
Micrognathia |
Uncommon - Between 30% and 50% cases
|
Low-set ears |
Uncommon - Between 30% and 50% cases
|
Feeding difficulties |
Uncommon - Between 30% and 50% cases
|
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Other less frequent symptoms
Patients with Cleft palate and Gastroesophageal reflux. may also develop some of the following symptoms:
Uncommon Symptoms - Between 30% and 50% cases
Cryptorchidism
Anteverted nares
Smooth philtrum
Abnormal facial shape
Short stature
Intellectual disability
Long philtrum
Syndactyly
Microcephaly
Thin upper lip vermilion
Wide nasal bridge
Hearing impairment
Failure to thrive
Motor delay
Frontal bossing
Delayed speech and language development
Hypertelorism
Midface retrusion
Posteriorly rotated ears
Microtia
Highly arched eyebrow
Clinodactyly
Hirsutism
Prominent metopic ridge
Rare Symptoms - Less than 30% cases
Hypoplasia of the maxilla
Microdontia
Downslanted palpebral fissures
Patellar aplasia
Thick vermilion border
Delayed skeletal maturation
Dysphagia
Ventricular septal defect
Abnormality of cardiovascular system morphology
Pectus excavatum
Respiratory tract infection
Intrauterine growth retardation
Hernia
Abnormal cardiac septum morphology
Abnormal heart morphology
Clinodactyly of the 5th finger
Pulmonic stenosis
Prominent forehead
Thin vermilion border
Large fontanelles
Cutis marmorata
Finger clinodactyly
Intestinal malrotation
Thick eyebrow
Synophrys
Pectus carinatum
Short nose
Upslanted palpebral fissure
Brachydactyly
Ptosis
Generalized hypotonia
Sandal gap
Oral cleft
Cleft upper lip
Poor speech
Depressed nasal bridge
Scoliosis
Cleft lip
Growth delay
Prominent nasal bridge
Talipes equinovarus
Brachycephaly
Cutaneous syndactyly
Underdeveloped nasal alae
Anal atresia
Bulbar palsy
Long fingers
Cupped ear
Narrow chest
Wide anterior fontanel
Full cheeks
Macrocephaly
Widow's peak
Neonatal hypotonia
Respiratory distress
Narrow mouth
Hip dysplasia
Hypoplasia of teeth
Single transverse palmar crease
Capillary hemangioma
Decreased skull ossification
Delayed myelination
Delayed closure of the anterior fontanelle
Microretrognathia
Narrow iliac wings
Lumbar hyperlordosis
Growth hormone deficiency
High iliac wings
Sutural cataract
Posterior Y-sutural cataract
Posterior wedging of vertebral bodies
Depressed nasal ridge
Punctate cataract
Forehead hyperpigmentation
Cognitive impairment
Premature loss of teeth
Emphysema
Brittle hair
Hyperpigmentation of the skin
Carious teeth
Joint hyperflexibility
Abnormality of skin pigmentation
Wide nose
Delayed eruption of teeth
Bifid uvula
Prominent nose
Esotropia
Tracheobronchomalacia
Subglottic stenosis
Hemangioma
Laryngomalacia
Bronchomalacia
Entropion
Hypoplastic labia majora
Stenosis of the external auditory canal
Tracheomalacia
Coarse hair
Prominent supraorbital ridges
Cortical gyral simplification
Delayed puberty
Short middle phalanx of finger
Myopia
Chylothorax
Short neck
Increased number of teeth
Patent ductus arteriosus
Pneumonia
Agenesis of corpus callosum
Sparse hair
Hypodontia
Ambiguous genitalia
Congenital diaphragmatic hernia
Recurrent urinary tract infections
Aspiration
Exstrophy
Abnormality of the voice
Double outlet right ventricle
Respiratory insufficiency
Bilateral cleft lip
Aspiration pneumonia
Recurrent aspiration pneumonia
Bilateral cleft lip and palate
Bladder exstrophy
Intestinal lymphangiectasia
Hydrocele testis
Pulmonary artery atresia
Volvulus
Abnormality of the nasopharynx
Right aortic arch
Hypospadias
Osteoma
Small for gestational age
Small hand
Abnormality of the dentition
Hyperlordosis
Abnormality of the pharynx
Conductive hearing impairment
Behavioral abnormality
Feeding difficulties in infancy
Umbilical hernia
High forehead
Postnatal growth retardation
Bulbous nose
Downturned corners of mouth
Short foot
Epicanthus
Hypertrichosis
Long eyelashes
Low anterior hairline
Proximal placement of thumb
Severe short stature
Thick hair
Limited elbow movement
Recurrent respiratory infections
Strabismus
Posterior pharyngeal cleft
Sensorineural hearing impairment
Telecanthus
Broad hallux
Wide mouth
Flexion contracture
Bilateral talipes equinovarus
Short clavicles
Broad neck
Short columella
Asplenia
Velopharyngeal insufficiency
Median cleft palate
Upper eyelid coloboma
Seizures
Muscle weakness
Muscular hypotonia
Myopathy
Generalized hirsutism
Encephalopathy
Areflexia
Hyporeflexia
Respiratory failure
Facial palsy
Paralysis
Camptodactyly of finger
Muscular dystrophy
Generalized muscle weakness
Decreased fetal movement
Recurrent pneumonia
Overfolded helix
Choanal atresia
Poor head control
Long penis
Low-set, posteriorly rotated ears
Apnea
Round face
Dental malocclusion
Dental crowding
Preauricular skin tag
Poor suck
Ankylosis
Glossoptosis
Upper airway obstruction
Central apnea
Snoring
Talipes
Overfolding of the superior helices
Speech articulation difficulties
Temporomandibular joint ankylosis
Hypoplastic superior helix
Mandibular condyle hypoplasia
Question mark ear
Mandibular condyle aplasia
Cleft at the superior portion of the pinna
Cerebellar hypoplasia
Craniosynostosis
Short philtrum
Severe muscular hypotonia
Nasal speech
Joint laxity
Radioulnar synostosis
2-3 toe syndactyly
Short 5th finger
High anterior hairline
Large forehead
Achalasia
Short 2nd finger
Laterally extended eyebrow
Oral aversion
Hyperactivity
Attention deficit hyperactivity disorder
Hemivertebrae
Short femoral neck
Sparse eyebrow
Slender finger
Submucous cleft hard palate
Exostoses
Vertebral clefting
Prominent eyelashes
Cataract
Optic atrophy
Malar flattening
Osteopenia
Skeletal dysplasia
Pes planus
Trigonocephaly
Tented upper lip vermilion
Restrictive ventilatory defect
Hypoplasia of the capital femoral epiphysis
Difficulty running
Increased connective tissue
Diaphragmatic paralysis
Respiratory arrest
Increased endomysial connective tissue
Micropenis
Triangular face
Elbow dislocation
Slender long bone
Mild global developmental delay
Irregular epiphyses
Small earlobe
Broad thumb
Toe clinodactyly
Birth length less than 3rd percentile
Irregular femoral epiphysis
Abnormality of the skeletal system
Atrial septal defect
Deeply set eye
Autistic behavior
Broad forehead
Hypermetropia
Narrow forehead
Coarctation of aorta
Nasogastric tube feeding
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