Cleft palate, and Dysphagia

Diseases related with Cleft palate and Dysphagia

In the following list you will find some of the most common rare diseases related to Cleft palate and Dysphagia that can help you solving undiagnosed cases.


Top matches:

Low match LETHAL CONGENITAL CONTRACTURE SYNDROME 8; LCCS8


Lethal congenital contracture syndrome-8, an axoglial form of arthrogryposis multiplex congenita, is characterized by congenital distal joint contractures, reduced fetal movements, and severe motor paralysis leading to death early in the neonatal period (Laquerriere et al., 2014).For a general phenotypic description and a discussion of genetic heterogeneity of lethal congenital contracture syndrome, see LCCS1 (OMIM ).

Related symptoms:

  • Generalized hypotonia
  • Cleft palate
  • Flexion contracture
  • Respiratory distress
  • Areflexia


SOURCES: OMIM MENDELIAN

More info about LETHAL CONGENITAL CONTRACTURE SYNDROME 8; LCCS8

Low match LETHAL CONGENITAL CONTRACTURE SYNDROME 7; LCCS7


Lethal congenital contracture syndrome-7, an axoglial form of arthrogryposis multiplex congenita, is characterized by congenital distal joint contractures, polyhydramnios, reduced fetal movements, and severe motor paralysis leading to death early in the neonatal period (Laquerriere et al., 2014).For a general phenotypic description and a discussion of genetic heterogeneity of lethal congenital contracture syndrome, see LCCS1 (OMIM ).

Related symptoms:

  • Generalized hypotonia
  • Micrognathia
  • Cleft palate
  • Flexion contracture
  • Areflexia


SOURCES: OMIM MENDELIAN

More info about LETHAL CONGENITAL CONTRACTURE SYNDROME 7; LCCS7

Low match MYASTHENIC SYNDROME, CONGENITAL, 3C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY; CMS3C


Congenital myasthenic syndrome associated with AChR deficiency is a disorder of the postsynaptic neuromuscular junction (NMJ) clinically characterized by early-onset muscle weakness with variable severity. Electrophysiologic studies show low amplitude of the miniature endplate potential (MEPP) and current (MEPC) resulting from deficiency of AChR at the endplate. Treatment with acetylcholinesterase inhibitors or amifampridine may be helpful (summary by Engel et al., 2015).For a discussion of genetic heterogeneity of CMS, see CMS1A (OMIM ).

Related symptoms:

  • Generalized hypotonia
  • Muscle weakness
  • Ptosis
  • High palate
  • Feeding difficulties


SOURCES: OMIM MENDELIAN

More info about MYASTHENIC SYNDROME, CONGENITAL, 3C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY; CMS3C

Mendelian

Too many results?
We can help you with your rare disease diagnosis.

Learn more

Other less relevant matches:

Low match DEVELOPMENTAL MALFORMATIONS-DEAFNESS-DYSTONIA SYNDROME


Developmental malformations-deafness-dystonia syndrome is characterised by the association of midline malformations, sensory hearing loss, and a delayed-onset generalised dystonia syndrome.

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about DEVELOPMENTAL MALFORMATIONS-DEAFNESS-DYSTONIA SYNDROME

Low 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

Low match INTELLECTUAL DISABILITY, BIRK-BAREL TYPE


Intellectual disability, Birk-Barel type is a rare, genetic, syndromic intellectual disability characterized by congenital central hypotonia, developmental delay, moderate to severe intellectual disability and subtle dysmorphic features which evolve over time (dolichocephaly, myopathic facies, ptosis, short and broad philtrum, tented upper lip vermillion, palatal anomalies, mild micro- and/or retrognathia). Patients present reduced facial movements, lethargy, weak cry, transient neonatal hypoglycemia, severe feeding difficulties and failure to thrive. Dysphagia, particularly of solid food, asthenic body build, joint contractures and scoliosis are additional features.

INTELLECTUAL DISABILITY, BIRK-BAREL TYPE Is also known as intellectual disability-hypotonia-facial dysmorphism syndrome|birk-barel mental retardation dysmorphism syndrome|mental retardation with hypotonia and facial dysmorphism

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Micrognathia


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about INTELLECTUAL DISABILITY, BIRK-BAREL TYPE

Low 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

Low match BOR SYNDROME


Branchiootorenal (BOR) syndrome is characterized by branchial arch anomalies (branchial clefts, fistulae, cysts), hearing impairment (malformations of the auricle with pre-auricular pits, conductive or sensorineural hearing impairment), and renal malformations (urinary tree malformation, renal hypoplasia or agenesis, renal dysplasia, renal cysts).

BOR SYNDROME Is also known as melnick-fraser syndrome|branchiootorenal syndrome|branchiootorenal dysplasia

Related symptoms:

  • Hearing impairment
  • Sensorineural hearing impairment
  • Cleft palate
  • High palate
  • Myopia


SOURCES: ORPHANET OMIM MENDELIAN

More info about BOR SYNDROME

Low match MOEBIUS SYNDROME


Moebius syndrome is a very rare congenital cranial dysinnervation disorder characterized by complete or incomplete facial paralysis in association with bilateral palsy of the abducens nerve causing impairment of ocular abduction. The syndrome also includes various other congenital anomalies.

MOEBIUS SYNDROME Is also known as mÖbius syndrome|congenital facial diplegia

Related symptoms:

  • Hearing impairment
  • Micrognathia
  • Strabismus
  • Muscular hypotonia
  • Cleft palate


SOURCES: ORPHANET MENDELIAN

More info about MOEBIUS SYNDROME

Low match 17P11.2 MICRODUPLICATION SYNDROME


17p11.2 microduplication syndrome is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 17, typically characterized by hypotonia, poor feeding, failure to thrive, developmental delay (particularly cognitive and language deficits), mild-moderate intellectual deficit, and neuropsychiatric disorders (behavioral problems, anxiety, attention deficit hyperactivity disorder, autistic spectrum disorder, bipolar disorder). Structural cardiovascular anomalies (dilated aortic root, bicommissural aortic valve, atrial/ventricular and septal defects) and sleep disturbance (obstructive and central sleep apnea) are also frequently associated.

17P11.2 MICRODUPLICATION SYNDROME Is also known as potocki-lupski syndrome|trisomy 17p11.2|chromosome 17p11.2 duplication syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about 17P11.2 MICRODUPLICATION SYNDROME

Top 5 symptoms//phenotypes associated to Cleft palate and Dysphagia

Symptoms // Phenotype % cases
High palate Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Facial palsy Uncommon - Between 30% and 50% cases
Micrognathia Uncommon - Between 30% and 50% cases
Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Other less frequent symptoms

Patients with Cleft palate and Dysphagia. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Flexion contracture Intellectual disability Hearing impairment Feeding difficulties Muscular hypotonia Oral-pharyngeal dysphagia Paralysis Epicanthus Seizures Hypertelorism Feeding difficulties in infancy Scoliosis Neonatal hypotonia Gastroesophageal reflux Sensorineural hearing impairment Areflexia Arthrogryposis multiplex congenita Decreased fetal movement Muscle weakness Motor delay

Rare Symptoms - Less than 30% cases


Abnormality of cardiovascular system morphology Abnormality of the pharynx Talipes equinovarus Pectus excavatum Myopia Abnormal facial shape Skeletal muscle atrophy Hyperactivity Retrognathia Wide nasal bridge Bifid uvula Abnormality of the voice Intestinal malrotation Smooth philtrum Abnormal heart morphology Downslanted palpebral fissures Strabismus Frontal bossing Abnormality of the kidney Autism Failure to thrive Microdontia Cleft upper lip Small for gestational age Respiratory insufficiency Ptosis Facial diplegia Intellectual disability, mild Distal arthrogryposis Short stature Congenital contracture Pterygium Cleft lip Akinesia Polyhydramnios Oral cleft Respiratory distress Abnormal lacrimal duct morphology Renal dysplasia Renal steatosis Bilateral renal dysplasia Unilateral renal hypoplasia Euthyroid goiter Lacrimal duct aplasia Central sleep apnea Abnormality of the renal collecting system Abnormality of the cerebrum Dilatated internal auditory canal Incomplete partition of the cochlea type II Preauricular skin tag Cholesteatoma Enlarged cochlear aqueduct Gustatory lacrimation Expressive language delay Atrial fibrillation Visual impairment Brachydactyly Prominent nasal tip Clinodactyly of the 5th finger Renal hypoplasia Hypoplasia of the cochlea Cochlear malformation Renal hypoplasia/aplasia Stenosis of the external auditory canal Atresia of the external auditory canal Multicystic kidney dysplasia Polycystic kidney dysplasia Cupped ear Epiphora Preauricular pit Ectopic kidney Premature graying of hair Mixed hearing impairment External ear malformation Lacrimation abnormality Renal malrotation Ureteropelvic junction obstruction Lacrimal duct stenosis Congenital hip dislocation Overbite Bilateral renal agenesis Abnormality of the middle ear ossicles Narrow face Body odor Branchial cyst Arteria lusoria Branchial fistula Finger syndactyly Abnormal renal morphology Poor fine motor coordination High hypermetropia EEG abnormality Anxiety Low-set, posteriorly rotated ears Apnea Autistic behavior Wide mouth Attention deficit hyperactivity disorder Broad forehead Hypermetropia Hypoplasia of the maxilla Triangular face Poor eye contact Delayed myelination Hypothyroidism Dental malocclusion Abnormality of the cardiovascular system Dental crowding Dysphasia Open bite Stereotypy Hypercholesterolemia Sleep apnea Infantile muscular hypotonia Patent foramen ovale Failure to thrive in infancy Trigonocephaly Language impairment Mandibular prognathia Abnormality of the dentition Hypocholesterolemia Abnormality of the ulna Abnormality of dental morphology Corneal opacity Ophthalmoplegia Everted lower lip vermilion Open mouth Hypogonadotrophic hypogonadism Cranial nerve paralysis Reduced number of teeth Mask-like facies Multiple cafe-au-lait spots Aplasia/Hypoplasia of the thumb Aplasia/Hypoplasia of the radius Blepharitis Breast aplasia Hypoplasia of the corpus callosum Absent hand Abnormality of the sense of smell Aplasia/Hypoplasia involving the metacarpal bones Aplasia/Hypoplasia of the tongue Speech apraxia Aplasia of the pectoralis major muscle Abnormality of chromosome segregation Microcephaly Bilateral sensorineural hearing impairment Delayed speech and language development Echolalia Bipolar affective disorder Dysarthria Cognitive impairment Hydrocele testis Oligohydramnios Respiratory arrest Generalized muscle weakness Recurrent pneumonia Severe muscular hypotonia Poor head control Nasal speech Restrictive ventilatory defect Long fingers Bulbar palsy Difficulty running Increased connective tissue Diaphragmatic paralysis Increased endomysial connective tissue Camptodactyly of finger Intellectual disability, severe Depressivity Babinski sign Hypoglycemia Short philtrum Dolichocephaly Poor speech Thick eyebrow High, narrow palate Highly arched eyebrow Broad nasal tip Narrow forehead Muscular dystrophy Respiratory tract infection Tented upper lip vermilion Mental deterioration Knee flexion contracture Fetal akinesia sequence Fatigue Limb muscle weakness Cataract Abnormality of the skeletal system Blindness Dystonia Kyphosis Immunodeficiency High forehead Kyphoscoliosis Micromelia Respiratory failure Neurodegeneration Macroglossia Generalized dystonia Mild global developmental delay Hypoplastic scapulae Bulbar signs Achalasia Externally rotated hips Growth delay Myopathy Encephalopathy Hyporeflexia Sacral dimple Dysphonia Renal agenesis Exstrophy Aspiration pneumonia Bilateral cleft lip and palate Widow's peak Pulmonary artery atresia Volvulus Chylothorax Right aortic arch Abnormality of the nasopharynx Intestinal lymphangiectasia Bladder exstrophy Recurrent aspiration pneumonia Osteoma Double outlet right ventricle Posterior pharyngeal cleft Hydrocephalus Renal insufficiency Microphthalmia Conductive hearing impairment Hydronephrosis Abnormality of the pinna Microtia Long face Flat face Pulmonary hypoplasia Vesicoureteral reflux Bilateral cleft lip Prominent metopic ridge Spinal muscular atrophy Pneumonia Neonatal hypoglycemia Broad eyebrow Tented philtrum Submucous cleft soft palate Cryptorchidism Low-set ears Ventricular septal defect Anteverted nares Syndactyly Hernia Hypospadias Patent ductus arteriosus Agenesis of corpus callosum Increased number of teeth Posteriorly rotated ears Prominent forehead Thin upper lip vermilion Telecanthus Pectus carinatum Anal atresia Hypodontia Ambiguous genitalia Congenital diaphragmatic hernia Recurrent urinary tract infections Large fontanelles Aspiration Receptive language delay



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Feeding difficulties and Progressive cerebellar ataxia, related diseases and genetic alterations Intellectual disability, severe and Developmental regression, related diseases and genetic alterations Myopathy and Amenorrhea, related diseases and genetic alterations Myopathy and Paraplegia, related diseases and genetic alterations

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more