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:

Medium match AURICULOCONDYLAR SYNDROME 2; ARCND2


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

Medium 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

Medium match EARLY-ONSET MYOPATHY-AREFLEXIA-RESPIRATORY DISTRESS-DYSPHAGIA SYNDROME


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:

Medium match MEIER-GORLIN SYNDROME 5; MGORS5


Related symptoms:

  • Microcephaly
  • Failure to thrive
  • Micrognathia
  • Cleft palate
  • Cryptorchidism


SOURCES: OMIM MENDELIAN

More info about MEIER-GORLIN SYNDROME 5; MGORS5

Medium match CLEFT PALATE, CARDIAC DEFECTS, AND MENTAL RETARDATION; CPCMR


CLEFT PALATE, CARDIAC DEFECTS, AND MENTAL RETARDATION; CPCMR Is also known as cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Microcephaly
  • Abnormal facial shape


SOURCES: MESH OMIM MENDELIAN

More info about CLEFT PALATE, CARDIAC DEFECTS, AND MENTAL RETARDATION; CPCMR

Medium match CORNELIA DE LANGE SYNDROME 4; CDLS4


Related symptoms:

  • Global developmental delay
  • Short stature
  • Microcephaly
  • Cleft palate
  • Ptosis


SOURCES: OMIM MENDELIAN

More info about CORNELIA DE LANGE SYNDROME 4; CDLS4

Medium match CRANIOLENTICULOSUTURAL DYSPLASIA


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

Medium match CORNELIA DE LANGE SYNDROME 3; CDLS3


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

Medium match OPITZ GBBB SYNDROME, TYPE I; GBBB1


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

Medium match MEIER-GORLIN SYNDROME 6; MGORS6


Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hearing impairment
  • Failure to thrive
  • Micrognathia


SOURCES: OMIM MENDELIAN

More info about MEIER-GORLIN SYNDROME 6; MGORS6

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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