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 AURICULOCONDYLAR SYNDROME 1; ARCND1

Auriculocondylar syndrome (ARCND) is an autosomal dominant disorder of the first and second pharyngeal arches and is characterized by malformed ears (question mark ears), prominent cheeks, microstomia, abnormal temporomandibular joint, and mandibular condyle hypoplasia (summary by Masotti et al., 2008). Genetic Heterogeneity of Auriculocondylar SyndromeAuriculocondylar syndrome-2 (ARCND2 ) is caused by mutation in the PLCB4 gene (OMIM ) on chromosome 20p12.3-p12.2. ARCND3 (OMIM ) is caused by mutation in the EDN1 gene (OMIM ) on chromosome 6p24.See also {612798} for isolated question mark ears.

AURICULOCONDYLAR SYNDROME 1; ARCND1 Is also known as question mark ears syndrome;question mark ear syndrome

Related symptoms:

  • Autosomal dominant inheritance
  • Pica
  • Hearing impairment
  • Micrognathia
  • Sensorineural hearing impairment


SOURCES: ORPHANET SCTID OMIM MONDO UMLS

More info about AURICULOCONDYLAR SYNDROME 1; ARCND1

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

Related symptoms:

  • Autosomal dominant inheritance
  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Pica


SOURCES: MONDO OMIM UMLS

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:

  • Autosomal dominant inheritance
  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia


SOURCES: OMIM UMLS MONDO

More info about PERIVENTRICULAR NODULAR HETEROTOPIA 7; PVNH7

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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:

  • Autosomal dominant inheritance
  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia


SOURCES: DOID UMLS NCIT MONDO OMIM MESH

More info about HOLOPROSENCEPHALY 2; HPE2

Medium match MEESTER-LOEYS SYNDROME; MRLS

Related symptoms:

  • Pica
  • Hypertelorism
  • Ptosis
  • Abnormal facial shape
  • Flexion contracture


SOURCES: UMLS MONDO OMIM

More info about MEESTER-LOEYS SYNDROME; MRLS

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:

  • Autosomal dominant inheritance
  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature


SOURCES: MESH MONDO OMIM DOID UMLS

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 22; MRD22

Medium match ARTHROGRYPOSIS, DISTAL, TYPE 3; DA3

DA3, or Gordon syndrome, is distinguished from other distal arthrogryposes by short stature and cleft palate (summary by Bamshad et al., 2009).There are 2 syndromes with features overlapping those of DA3 that are also caused by heterozygous mutation in PIEZO2: distal arthrogryposis type 5 (DA5 ) and Marden-Walker syndrome (MWKS ), which are distinguished by the presence of ocular abnormalities and mental retardation, respectively. McMillin et al. (2014) suggested that the 3 disorders may represent variable expressivity of the same condition.For a phenotypic description and a discussion of genetic heterogeneity of distal arthrogryposis, see DA1 (OMIM ).

ARTHROGRYPOSIS, DISTAL, TYPE 3; DA3 Is also known as gordon syndrome, arthrogryposis multiplex congenita, distal, type iia, camptodactyly, cleft palate, and clubfoot;camptodactyly-cleft palate-clubfoot syndrome; distal arthrogryposis type 3; distal arthrogryposis type iia

Related symptoms:

  • Autosomal dominant inheritance
  • Short stature
  • Hearing impairment
  • Scoliosis
  • Micrognathia


SOURCES: MONDO GARD MESH SCTID UMLS ORPHANET OMIM

More info about ARTHROGRYPOSIS, DISTAL, TYPE 3; DA3

Medium match MYOPATHY, CENTRONUCLEAR, 2; CNM2

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.

MYOPATHY, CENTRONUCLEAR, 2; CNM2 Is also known as myopathy, centronuclear, autosomal recessive, myotubular myopathy, autosomal recessive;ar-cnm

Related symptoms:

  • Autosomal recessive inheritance
  • Intellectual disability
  • Generalized hypotonia
  • Pica
  • Scoliosis


SOURCES: OMIM MESH UMLS ORPHANET SCTID MONDO

More info about MYOPATHY, CENTRONUCLEAR, 2; CNM2

Medium match GROWTH RETARDATION, DEVELOPMENTAL DELAY, AND FACIAL DYSMORPHISM; GDFD

Growth retardation, developmental delay, and facial dysmorphism (GDFD) is an autosomal recessive multiple congenital anomaly syndrome characterized by severe psychomotor retardation, poor overall growth, and dysmorphic facial features. Additional features may include cardiac malformations and deafness (summary by Daoud et al., 2016).

GROWTH RETARDATION, DEVELOPMENTAL DELAY, AND FACIAL DYSMORPHISM; GDFD Is also known as ;

Related symptoms:

  • Autosomal recessive inheritance
  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Microcephaly


SOURCES: ORPHANET UMLS OMIM MESH MONDO

More info about GROWTH RETARDATION, DEVELOPMENTAL DELAY, AND FACIAL DYSMORPHISM; GDFD

Medium match MIDFACE HYPOPLASIA, HEARING IMPAIRMENT, ELLIPTOCYTOSIS, AND NEPHROCALCINOSIS; MFHIEN

Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis is an X-linked recessive disorder with onset of features in early childhood. Anemia is sometimes present. Some patients may show mild early motor or speech delay, but cognition is normal (summary by Andreoletti et al., 2017).

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Micrognathia


SOURCES: OMIM UMLS MONDO

More info about MIDFACE HYPOPLASIA, HEARING IMPAIRMENT, ELLIPTOCYTOSIS, AND NEPHROCALCINOSIS; MFHIEN

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

Symptoms // Phenotype % cases
Cleft palate Common - Between 50% and 80% cases
Autosomal dominant inheritance Common - Between 50% and 80% cases
Hearing impairment Common - Between 50% and 80% cases
Micrognathia Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% 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


Pica Generalized hypotonia Global developmental delay Ptosis Cryptorchidism Short stature Protruding ear Sensorineural hearing impairment Downslanted palpebral fissures Malar flattening Seizures Epicanthus Feeding difficulties Midface retrusion Submucous cleft hard palate Thin vermilion border Strabismus Short neck Flexion contracture Hypoplasia of the corpus callosum Talipes equinovarus Short nose Microcephaly Scoliosis Delayed speech and language development Absent speech Retrognathia Macrocephaly Narrow mouth

Rare Symptoms - Less than 30% cases


Failure to thrive Autosomal recessive inheritance Posteriorly rotated ears Dental crowding Long philtrum Round face Myopathy Facial asymmetry Muscular hypotonia of the trunk Patent ductus arteriosus Motor delay Growth delay Severe sensorineural hearing impairment Abnormality of the pinna Cataract Anteverted nares Agenesis of corpus callosum Oxycephaly Joint hypermobility Camptodactyly Talipes Pes planus Left ventricular hypertrophy Thin upper lip vermilion Hypertelorism Hernia Respiratory distress Ophthalmoplegia High palate Low-set ears Webbed neck Anemia Clinodactyly of the 5th finger Hyperlordosis Pes cavus Feeding difficulties in infancy Facial palsy Proximal muscle weakness Neonatal hypotonia Dyspnea Thoracolumbar scoliosis Triangular face Difficulty walking Limitation of joint mobility Distal muscle weakness Long face Waddling gait Single transverse palmar crease Abnormality of skin pigmentation Generalized muscle weakness Progressive muscle weakness Scapular winging Areflexia Kyphosis Congestive heart failure Bilateral talipes equinovarus Ulnar deviation of the hand or of fingers of the hand Camptodactyly of toe Decreased hip abduction Distal arthrogryposis Down-sloping shoulders Cutaneous finger syndactyly Muscle weakness Overlapping toe Cognitive impairment Respiratory insufficiency due to muscle weakness Dysarthria Lumbar hyperlordosis Pterygium Decreased muscle mass Knee flexion contracture Congenital hip dislocation Abnormal vertebral morphology Skeletal muscle atrophy Respiratory insufficiency Short phalanx of finger Intellectual disability, mild Abnormality of the rib cage Hypoplastic superior helix Generalized amyotrophy External ophthalmoplegia Hydronephrosis Small nail Dandy-Walker malformation Lissencephaly Short chin Cutis marmorata Failure to thrive in infancy Protruding tongue Severe failure to thrive Periorbital fullness Skull asymmetry X-linked recessive inheritance Clinodactyly Conductive hearing impairment Nephrotic syndrome Delayed myelination Broad forehead Synophrys Flat face Delayed eruption of teeth Esotropia Renal dysplasia Nephrocalcinosis Calcinosis Patent foramen ovale Hypercalciuria Finger clinodactyly Large forehead Elliptocytosis Broad distal phalanx of finger Ventricular hypertrophy Macroglossia EMG: myopathic abnormalities Type 1 muscle fiber predominance Dysphonia Gowers sign Ophthalmoparesis Bilateral ptosis Difficulty climbing stairs Congenital contracture Long fingers Centrally nucleated skeletal muscle fibers Hip contracture Onset Difficulty running Abnormal heart valve morphology Exertional dyspnea Facial diplegia Axial muscle weakness Wide mouth EMG: decremental response of compound muscle action potential to repetitive nerve stimulation Small finger Brachydactyly Intrauterine growth retardation Wide nasal bridge Ventricular septal defect Hydrocephalus Cardiomyopathy Hypertonia Abnormality of cardiovascular system morphology Obesity Coarse facial features Umbilical hernia Hypertrophic cardiomyopathy Abnormality of the foot Partial agenesis of the corpus callosum Arthrogryposis multiplex congenita Nystagmus Dental malocclusion Myopia Optic atrophy Full cheeks Syndactyly Congenital onset Toe syndactyly Polymicrogyria Heterotopia 2-3 toe syndactyly Cortical dysplasia Apnea Muscular hypotonia Atresia of the external auditory canal Milia Microphthalmia Heterogeneous Cerebellar hypoplasia Constipation Sporadic Coloboma Cleft lip Microcornea Astigmatism Hypotelorism Exotropia Preauricular skin tag Abnormality of the outer ear Diabetes insipidus Glossoptosis Anterior open-bite malocclusion Question mark ear Abnormality of the temporomandibular joint Hypoplasia of first ribs Mandibular condyle hypoplasia Cleft at the superior portion of the pinna Mandibular condyle aplasia Postauricular skin tag Overfolding of the superior helices Snoring Impaired mastication Poroma Stenosis of the external auditory canal Mandibulofacial dysostosis Infantile onset External ear malformation Facial cleft Microtia Congenital diaphragmatic hernia Sparse and thin eyebrow Sparse eyebrow Cupped ear Macrocytic anemia Mixed hearing impairment Broad neck Granulocytopenia Holoprosencephaly Adrenal hypoplasia Finger syndactyly Short palpebral fissure Depressed nasal bridge Intellectual disability, severe Dystonia Prominent forehead Telecanthus Short philtrum Neurological speech impairment Small for gestational age Smooth philtrum Downturned corners of mouth Wide nose Highly arched eyebrow Absence seizures Cervical spine instability Microretrognathia Widely spaced teeth Long nose Speech articulation difficulties Prominent metopic ridge Bruxism Prominent nasal tip Long upper lip Pectus excavatum Kyphoscoliosis Camptodactyly of finger Retinopathy Spasticity Pulmonary artery aneurysm Chronic constipation Skeletal dysplasia Narrow nasal bridge Median cleft lip and palate Single median maxillary incisor Cyclopia Hypoplastic philtrum Aplasia of the nose Absent nasal septal cartilage Anterior pituitary agenesis Frontal bossing Ventriculomegaly Dilatation Proptosis X-linked inheritance Dilatation of the cerebral artery Hip dislocation Platyspondyly Hypertrichosis Mitral regurgitation Gingival overgrowth Joint dislocation Aortic regurgitation Aortic aneurysm Relative macrocephaly Abnormality of the sternum Striae distensae Aortic dissection Cleft hard palate



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Other signs and symptoms that you may find interesting

Congestive heart failure and Epileptic encephalopathy, related diseases and genetic alterations Macrocephaly and Ventricular septal defect, related diseases and genetic alterations Depressed nasal bridge and Thin upper lip vermilion, related diseases and genetic alterations Hypertension and Prominent nasal bridge, related diseases and genetic alterations Nystagmus and Gait disturbance, related diseases and genetic alterations