Abnormal facial shape, and Bifid uvula

Diseases related with Abnormal facial shape and Bifid uvula

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


Top matches:

Medium match DIAMOND-BLACKFAN ANEMIA 15 WITH MANDIBULOFACIAL DYSOSTOSIS; DBA15


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

Medium match PERIVENTRICULAR NODULAR HETEROTOPIA 7; PVNH7


Periventricular nodular heterotopia-7 is a neurologic disorder characterized by abnormal neuronal migration during brain development resulting in delayed psychomotor development and intellectual disability; some patients may develop seizures. Other features include cleft palate and 2-3 toe syndactyly (summary by Broix et al., 2016).For a phenotypic description and a discussion of genetic heterogeneity of periventricular heterotopia, see {300049}.

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM MENDELIAN

More info about PERIVENTRICULAR NODULAR HETEROTOPIA 7; PVNH7

Medium match MEESTER-LOEYS SYNDROME; MRLS


Related symptoms:

  • Hypertelorism
  • Abnormal facial shape
  • Flexion contracture
  • Macrocephaly
  • Downslanted palpebral fissures


SOURCES: OMIM MENDELIAN

More info about MEESTER-LOEYS SYNDROME; MRLS

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Other less relevant matches:

Medium match HOLOPROSENCEPHALY 2; HPE2


A rare disorder characterized by the partial separation of the cerebral hemispheres. It is associated with mutations in the SIX3 gene.

Related symptoms:

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


SOURCES: MESH OMIM MENDELIAN

More info about HOLOPROSENCEPHALY 2; HPE2

Medium match AURICULOCONDYLAR 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

Medium match AMYOTROPHY, HEREDITARY NEURALGIC; HNA


Hereditary neuralgic amyotrophy (HNA) is an autosomal dominant form of recurrent focal neuropathy characterized clinically by acute, recurrent episodes of brachial plexus neuropathy with muscle weakness and atrophy preceded by severe pain in the affected arm.

AMYOTROPHY, HEREDITARY NEURALGIC; HNA Is also known as neuritis with brachial predilection|napb|amyotrophy, hereditary neuralgic, with predilection for brachial plexus|brachial plexus neuropathy, hereditary

Related symptoms:

  • Short stature
  • Muscle weakness
  • Abnormal facial shape
  • Cleft palate
  • Pain


SOURCES: OMIM MENDELIAN

More info about AMYOTROPHY, HEREDITARY NEURALGIC; HNA

Medium match PGM1-CDG


Congenital disorder of glycosylation type It (CDG1T) is an autosomal recessive disorder characterized by a wide range of clinical manifestations and severity. The most common features include cleft lip and bifid uvula, apparent at birth, followed by hepatopathy, intermittent hypoglycemia, short stature, and exercise intolerance, often accompanied by increased serum creatine kinase. Less common features include rhabdomyolysis, dilated cardiomyopathy, and hypogonadotropic hypogonadism (summary by Tegtmeyer et al., 2014).For a discussion of the classification of CDGs, see CDG1A (OMIM ).

PGM1-CDG Is also known as glycogen storage disease xiv|gsd14|gsd xiv|congenital disorder of glycosylation type it|cdg syndrome type it|cdg-it|cdg it|cdg1t|cdgit|phosphoglucomutase-1 deficiency|pgm1 deficiency|phosphoglucomutase 1 deficiency|congenital disorder of glycosylation typ

Related symptoms:

  • Short stature
  • Growth delay
  • Micrognathia
  • Muscle weakness
  • Abnormal facial shape


SOURCES: ORPHANET OMIM MENDELIAN

More info about PGM1-CDG

Medium match MENTAL RETARDATION, AUTOSOMAL DOMINANT 22; MRD22


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

Medium match AUTOSOMAL RECESSIVE CENTRONUCLEAR MYOPATHY


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

Medium match GORDON SYNDROME


Gordon syndrome, also known as distal arthrogryposis type 3, is an extremely rare multiple congenital malformation syndrome characterized by congenital contractures of hand and feet with variable degrees of severity of camptodactyly, clubfoot and, less frequently, cleft palate. Intelligence is normal but in some cases, additional abnormalities, such as short stature, kyphoscoliosis, ptosis, micrognathia, and cryptorchidism may also be present. Gordon syndrome, Marden-Walker syndrome and arthrogryposis with oculomotor limitation and electroretinal anomalies clinically and genetically overlap, and could represent variable expressions of the same condition.

GORDON SYNDROME Is also known as distal arthrogryposis type iia|arthrogryposis multiplex congenita, distal, type iia|camptodactyly, cleft palate, and clubfoot|gordon syndrome|distal arthrogryposis type 3|camptodactyly-cleft palate-clubfoot syndrome

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about GORDON SYNDROME

Top 5 symptoms//phenotypes associated to Abnormal facial shape and Bifid uvula

Symptoms // Phenotype % cases
Cleft palate Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Micrognathia Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Flexion contracture Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Short stature Generalized hypotonia Ptosis Protruding ear Low-set ears Deeply set eye Epicanthus Feeding difficulties Hearing impairment Syndactyly Short nose Narrow mouth Facial asymmetry Cryptorchidism Scoliosis Seizures Submucous cleft hard palate Macrocephaly Malar flattening Intellectual disability, mild Downslanted palpebral fissures Muscle weakness Respiratory distress

Rare Symptoms - Less than 30% cases


Microcephaly Cardiomyopathy Agenesis of corpus callosum Cleft lip Hypotelorism Dyspnea Ophthalmoplegia Motor delay Growth delay Camptodactyly Scapular winging Abnormality of the pinna Finger syndactyly Fatigue Skeletal muscle atrophy Depressed nasal bridge Delayed speech and language development Round face Talipes equinovarus High palate Hyperlordosis Prominent forehead Webbed neck Strabismus Hypertelorism Sensorineural hearing impairment Muscular hypotonia of the trunk Midface retrusion Absent speech Posteriorly rotated ears Hypoplasia of the corpus callosum Intellectual disability, severe Decreased muscle mass Abnormality of skin pigmentation Cutaneous finger syndactyly Spasticity Dystonia Distal arthrogryposis Abnormal protein glycosylation Thoracolumbar scoliosis Failure to thrive Telecanthus Long philtrum Thin upper lip vermilion Short philtrum Small for gestational age Neurological speech impairment Smooth philtrum Thin vermilion border Wide nose Downturned corners of mouth Highly arched eyebrow Wide intermamillary distance Short palpebral fissure Absence seizures Microretrognathia Widely spaced teeth Type II transferrin isoform profile Increased muscle glycogen content Down-sloping shoulders Decreased hip abduction Hypoglycemia Ulnar deviation of the hand or of fingers of the hand Elevated hepatic transaminase Abnormality of the liver Dilated cardiomyopathy Delayed puberty Tachycardia Hepatic steatosis Muscle cramps Chest pain Hepatitis Cardiac arrest Hypogonadotrophic hypogonadism Exercise intolerance Cerebral venous thrombosis Abnormality of the coagulation cascade Rhabdomyolysis Malignant hyperthermia Pierre-Robin sequence Hyperinsulinemic hypoglycemia Small face Abnormality of the rib cage Type I transferrin isoform profile Chronic hepatitis Decreased serum insulin-like growth factor 1 Reduced antithrombin III activity Increased intramyocellular lipid droplets Exercise-induced muscle fatigue Partial agenesis of the corpus callosum Long nose Long upper lip Prominent metopic ridge Centrally nucleated skeletal muscle fibers Dysphonia Bilateral ptosis Congenital contracture Dandy-Walker malformation Limitation of joint mobility Gowers sign Ophthalmoparesis Generalized amyotrophy Triangular face Difficulty climbing stairs Long fingers Exertional dyspnea Abnormal heart valve morphology Hip contracture Lumbar hyperlordosis Difficulty running Facial diplegia Type 1 muscle fiber predominance Axial muscle weakness EMG: decremental response of compound muscle action potential to repetitive nerve stimulation Short neck Pectus excavatum Clinodactyly of the 5th finger Kyphoscoliosis Retinopathy Single transverse palmar crease Camptodactyly of finger Arthrogryposis multiplex congenita Abnormality of the foot EMG: myopathic abnormalities Interphalangeal joint contracture of finger Bruxism Abnormal vertebral morphology Prominent nasal tip Talipes Cognitive impairment Bilateral talipes equinovarus Dysarthria Overlapping toe Respiratory insufficiency Pterygium Myopathy Knee flexion contracture Congenital hip dislocation Congestive heart failure Kyphosis Areflexia External ophthalmoplegia Pes cavus Retrognathia Difficulty walking Neonatal hypotonia Proximal muscle weakness Facial palsy Feeding difficulties in infancy Distal muscle weakness Long face Waddling gait Left ventricular hypertrophy Short phalanx of finger Progressive muscle weakness Respiratory insufficiency due to muscle weakness Generalized muscle weakness Paralysis Hypothyroidism Cerebellar hypoplasia Relative macrocephaly Aortic aneurysm Abnormality of the sternum Striae distensae Dilatation of the cerebral artery Aortic dissection Pulmonary artery aneurysm Cervical spine instability Nystagmus Muscular hypotonia Cataract Anteverted nares Microphthalmia Constipation Coloboma Joint dislocation Astigmatism Microcornea Exotropia Holoprosencephaly Diabetes insipidus Narrow nasal bridge Adrenal hypoplasia Chronic constipation Median cleft lip and palate Single median maxillary incisor Cyclopia Single ventricle Proboscis Hypoplastic philtrum Aortic regurgitation Gingival overgrowth Aplasia of the nose Toe syndactyly Anemia Hernia Microtia Congenital diaphragmatic hernia Sparse and thin eyebrow Sparse eyebrow Mixed hearing impairment Macrocytic anemia Severe sensorineural hearing impairment Broad neck Granulocytopenia Mandibulofacial dysostosis Myopia Optic atrophy Polymicrogyria Mitral regurgitation Heterotopia 2-3 toe syndactyly Abnormality of neuronal migration Cortical dysplasia Frontal bossing Ventriculomegaly Dilatation Proptosis Skeletal dysplasia Pes planus Hip dislocation Platyspondyly Joint hypermobility Hypertrichosis Absent nasal septal cartilage Anterior pituitary agenesis Hypogonadism Sensory impairment Postauricular skin tag Pain Peripheral neuropathy Abnormality of the skeletal system Edema Depressivity Hyporeflexia Hyperhidrosis Upslanted palpebral fissure Rigidity Myalgia Blepharophimosis Paresthesia Postural instability Hoarse voice Cleft helix Narrow face Narrow palpebral fissure Axonal degeneration Facial paralysis Chronic pain Dysesthesia Weak voice Neuritis Peripheral axonal degeneration Cutis gyrata of scalp Radial head subluxation Brachial plexus neuropathy Fever Elevated serum creatine phosphokinase Abnormality of the crus of the helix Cleft at the superior portion of the pinna Low-set, posteriorly rotated ears Stenosis of the external auditory canal Apnea Full cheeks Dental malocclusion Dental crowding Preauricular skin tag Abnormality of the outer ear Atresia of the external auditory canal Cupped ear Facial cleft External ear malformation Glossoptosis Ankylosis Obstructive sleep apnea Microglossia Impaired mastication Vein of Galen aneurysmal malformation 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 Hypoplasia of first ribs Mandibular condyle aplasia Periauricular skin pits Aplasia/Hypoplasia of the external ear Camptodactyly of toe



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