Feeding difficulties, and Bifid uvula

Diseases related with Feeding difficulties and Bifid uvula

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

Top matches:

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about DIAMOND-BLACKFAN ANEMIA 15 WITH MANDIBULOFACIAL DYSOSTOSIS; DBA15

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

Auriculo-condylar syndrome (ACS) presents with bilateral external ear malformations ('question mark' ears), mandibular condyle hypoplasia, microstomia, micrognathia, microglossia and facial asymmetry. Additional manifestations include hypotonia, ptosis, cleft palate, puffy cheeks, developmental delay, impaired hearing and respiratory distress.

AURICULOCONDYLAR SYNDROME Is also known as question mark ear syndrome|question mark ears syndrome

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Micrognathia
  • Sensorineural hearing impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about AURICULOCONDYLAR SYNDROME

Other less relevant matches:

Richieri Costa-Pereira syndrome is characterized by short stature, Robin sequence, cleft mandible, pre/postaxial hand anomalies (including hypoplastic thumbs), and clubfoot. It has been described in 14 Brazilian families and in one unrelated French patient. Prominent low set ears and a highly arched palate were also observed. Transmission is autosomal recessive.

RICHIERI COSTA-PEREIRA SYNDROME Is also known as short stature-pierre robin syndrome-cleft mandible-hand anomalies clubfoot syndrome|richieri-costa-pereira syndrome|rcps|short stature-pierre robin sequence-cleft mandible-hand anomalies clubfoot syndrome

Related symptoms:

  • Global developmental delay
  • Short stature
  • Micrognathia
  • Cleft palate
  • Low-set ears


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about RICHIERI COSTA-PEREIRA SYNDROME

Chromosome 1q43-q44 deletion syndrome is characterized by moderate to severe mental retardation, limited or no speech, and variable but characteristic facial features, including round face, prominent forehead, flat nasal bridge, hypertelorism, epicanthal folds, and low-set ears. Other features may include hypotonia, poor growth, microcephaly, agenesis of the corpus callosum, and seizures. The phenotype is variable, and not all features are observed in all patients, which may be explained in some cases by incomplete penetrance or variable expressivity (summary by Ballif et al., 2012).Patients with autosomal dominant mental retardation-22 have a phenotype similar to that in patients with chromosome 1q43-q44 deletion syndrome (de Munnik et al., 2014).

Related symptoms:

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


SOURCES: MESH OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 22; MRD22

Autosomal recessive centronuclear myopathy (AR-CNM) is an inherited neuromuscular disorder defined by numerous centrally placed nuclei on muscle biopsy and clinical features of a congenital myopathy.

AUTOSOMAL RECESSIVE CENTRONUCLEAR MYOPATHY Is also known as myopathy, centronuclear, autosomal recessive|myotubular myopathy, autosomal recessive|ar-cnm

Related symptoms:

  • Intellectual disability
  • Generalized hypotonia
  • Scoliosis
  • Muscle weakness
  • Abnormal facial shape


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about AUTOSOMAL RECESSIVE CENTRONUCLEAR MYOPATHY

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

Blepharophimosis-intellectual disability syndrome, SBBYS type is characterised by the association of congenital hypothyroidism, facial dysmorphism (microcephaly, blepharophimosis, a bulbous nose, thin lip, low-set ears and micrognathia), postaxial polydactyly and severe intellectual deficit. Less than 20 cases have been reported so far. Cryptorchidism is present in affected males. Some patients also have cardiac anomalies (interventricular communication), hypotonia and growth delay. Autosomal recessive inheritance has been suggested.

BLEPHAROPHIMOSIS-INTELLECTUAL DISABILITY SYNDROME, SBBYS TYPE Is also known as say-barber-biesecker-young-simpson syndrome|sbbyss|hypothyroidism-dysmorphism-postaxial polydactyly-intellectual disability syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Microcephaly
  • Growth delay


SOURCES: ORPHANET MENDELIAN

More info about BLEPHAROPHIMOSIS-INTELLECTUAL DISABILITY SYNDROME, SBBYS TYPE

High 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

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 Feeding difficulties and Bifid uvula

Symptoms // Phenotype % cases
Micrognathia Common - Between 50% and 80% cases
Cleft palate Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Short stature Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Feeding difficulties and Bifid uvula. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Protruding ear Respiratory distress Generalized hypotonia Narrow mouth Feeding difficulties in infancy Downslanted palpebral fissures Low-set ears Abnormal facial shape Sensorineural hearing impairment Hearing impairment Hypertelorism Seizures Cryptorchidism Failure to thrive Mandibular prognathia Microcephaly Hypoplasia of the maxilla Scoliosis Prominent nose Delayed speech and language development Short palpebral fissure Posteriorly rotated ears Choanal atresia Epicanthus High palate

Rare Symptoms - Less than 30% cases

Low-set, posteriorly rotated ears Apnea Abnormality of the pinna Growth delay Round face Facial asymmetry Microretrognathia Dental malocclusion Dental crowding Depressed nasal bridge Talipes equinovarus Clinodactyly of the 5th finger Abnormality of the outer ear Smooth philtrum Motor delay Difficulty walking Broad forehead Abnormality of cardiovascular system morphology Frontal bossing Strabismus Hypothyroidism Muscular hypotonia Specific learning disability Toe syndactyly Finger syndactyly Neonatal hypotonia Retrognathia Hypoplasia of the corpus callosum Intellectual disability, mild Respiratory insufficiency Dysarthria Flexion contracture Cognitive impairment Prominent nasal tip Neurological speech impairment Small for gestational age Thin upper lip vermilion Agenesis of corpus callosum Ptosis Long nose Cleft upper lip Mixed hearing impairment Hernia Midface retrusion Short philtrum Malar flattening Blepharophimosis Cleft lip Conductive hearing impairment Webbed neck Short nose Preauricular skin tag Atrial septal defect Thin vermilion border Wide nasal bridge Submucous cleft hard palate Ventricular septal defect External ear malformation Prominent occiput Patent ductus arteriosus Recurrent respiratory infections Severe short stature Microtia Polyhydramnios Type 1 muscle fiber predominance Camptodactyly of finger Joint hyperflexibility Bulbous nose Facial diplegia Sloping forehead Bilateral single transverse palmar creases Falls Axial muscle weakness Abnormality of the antihelix Abnormal nasolacrimal system morphology Difficulty running Thyroid hypoplasia Hip contracture Ectopic thyroid Centrally nucleated skeletal muscle fibers Abnormal heart valve morphology Thyroid agenesis Thyroid dysgenesis Neoplasm of the tongue Exertional dyspnea Atrioventricular canal defect Lower lip pit Intercrural pterygium Pterygium Otitis media Congenital diaphragmatic hernia Oral cleft Ambiguous genitalia Sparse and thin eyebrow Abnormality of the ribs Split hand Abnormality of the genital system Abnormality of the nail Generalized hirsutism Cerebral palsy Scrotal hypoplasia Bifid scrotum Hypodontia Non-midline cleft lip Hypoplastic labia majora Ankyloglossia Sparse eyebrow Ankyloblepharon Joint stiffness Popliteal pterygium Syndactyly Nonketotic hyperglycinemia Lip pit EMG: decremental response of compound muscle action potential to repetitive nerve stimulation Fibrous syngnathia Bilateral choanal atresia/stenosis Visual impairment Abnormality of the cheek Language impairment Autistic behavior Wide mouth Attention deficit hyperactivity disorder Hypermetropia Triangular face Delayed myelination Abnormality of the cardiovascular system Stereotypy Hypercholesterolemia Sleep apnea Infantile muscular hypotonia Patent foramen ovale Failure to thrive in infancy Trigonocephaly Oral-pharyngeal dysphagia Anxiety Speech apraxia Central sleep apnea Expressive language delay Poor fine motor coordination Abnormality of the pharynx Hypocholesterolemia Abnormal renal morphology Abnormality of chromosome segregation Abnormality of dental morphology Echolalia Bipolar affective disorder Poor eye contact High hypermetropia Dysphasia Open bite Abnormality of the kidney EEG abnormality Difficulty climbing stairs Flat face Arnold-Chiari malformation Narrow palate Large fontanelles Broad thumb Convex nasal ridge Delayed eruption of teeth Micromelia Absent septum pellucidum Anemia Proptosis Hydrocephalus Ventriculomegaly Optic atrophy Hypertension Vertebral segmentation defect Ovarian neoplasm Gastroesophageal reflux Acrobrachycephaly Autism Hyperactivity Abnormal heart morphology Abnormality of the dentition Dysphagia Myopia Cervical C5/C6 vertebrae fusion Aplasia/Hypoplasia of the thumb Morphological abnormality of the semicircular canal Brachyturricephaly Cloverleaf skull Ectopic anus Corneal erosion Esophageal atresia Long fingers External ophthalmoplegia Generalized amyotrophy Renal hypoplasia Vein of Galen aneurysmal malformation Cleft at the superior portion of the pinna Cleft helix Abnormality of the crus of the helix Postauricular skin tag Narrow palpebral fissure Renal dysplasia Hip dislocation Short metacarpal Limb undergrowth Short phalanx of finger Short thumb Hoarse voice Hypoplasia of the radius Periauricular skin pits Abnormality of the hand Abnormality of the voice Proximal placement of thumb Hypoplasia of the ulna Bilateral talipes equinovarus Mesomelia Fibular hypoplasia Pierre-Robin sequence Short tibia Abnormality of the larynx Acetabular dysplasia Hip subluxation Hypoplasia of the epiglottis Radial deviation of the hand Aplasia/Hypoplasia of the external ear Mandibular condyle aplasia Tibial deviation of toes Glossoptosis Bilateral choanal atresia Median cleft palate Macrocephaly Unilateral cleft lip Secundum atrial septal defect Hypomimic face Eyelid coloboma Full cheeks 2-3 toe syndactyly Abnormality of vision Abnormal palate morphology Atresia of the external auditory canal Cupped ear Facial cleft Ankylosis Hypoplasia of first ribs Obstructive sleep apnea Microglossia Stenosis of the external auditory canal Impaired mastication Hamartoma of tongue Snoring Difficulty in tongue movements Speech articulation difficulties Overfolding of the superior helices Anterior open-bite malocclusion Hypoplastic superior helix Question mark ear Mandibular condyle hypoplasia Abnormality of the temporomandibular joint Absent foot Aplasia of the epiglottis Ophthalmoparesis Hyperlordosis Skeletal muscle atrophy Broad neck Cardiomyopathy Myopathy Congestive heart failure Severe sensorineural hearing impairment Kyphosis Areflexia Pes cavus Dyspnea Macrocytic anemia Proximal muscle weakness Facial palsy Distal muscle weakness Mandibulofacial dysostosis Ophthalmoplegia Long face Generalized muscle weakness Waddling gait Left ventricular hypertrophy Progressive muscle weakness Scapular winging Respiratory insufficiency due to muscle weakness Lower eyelid coloboma EMG: myopathic abnormalities Dysphonia Bilateral ptosis Congenital contracture Gowers sign Granulocytopenia Muscle weakness Agenesis of mandibular central incisor Abnormality of the eye Pansynostosis Abnormality of the aryepiglottic fold Cleft lower alveolar ridge Cleft mandible Underdeveloped nasal alae Anal atresia Prominent nasal bridge Spasticity Abnormal cardiac septum morphology Coloboma Intellectual disability, severe Dystonia Long philtrum Absent speech Prominent forehead Long upper lip Deeply set eye Telecanthus Muscular hypotonia of the trunk Inguinal hernia Abnormality of metabolism/homeostasis Wide nose Downturned corners of mouth Highly arched eyebrow Wide intermamillary distance Absence seizures Widely spaced teeth Partial agenesis of the corpus callosum Prominent metopic ridge Bruxism Receptive language delay


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