Low-set ears, and Arachnodactyly

Diseases related with Low-set ears and Arachnodactyly

In the following list you will find some of the most common rare diseases related to Low-set ears and Arachnodactyly that can help you solving undiagnosed cases.


Top matches:

High match ANTLEY-BIXLER SYNDROME


Antley-Bixler syndrome is a very rare disorder characterised by craniosynostosis with midface hypoplasia, radiohumeral synostosis, femoral bowing and joint contractures.

Related symptoms:

  • Hypertelorism
  • Strabismus
  • Cleft palate
  • Downslanted palpebral fissures
  • Frontal bossing


SOURCES: ORPHANET MENDELIAN

More info about ANTLEY-BIXLER SYNDROME

High match 2Q24 MICRODELETION SYNDROME


2q24 microdeletion syndrome is a chromosomal anomaly consisting of a partial long arm deletion of chromosome 2 and characterized clinically by a wide range of manifestations (depending on the specific region deleted) which can include seizures, microcephaly, dysmorphic features, cleft palate, eye abnormalities (coloboma, cataract and microphthalmia), growth retardation, failure to thrive, heart defects, limb anomalies, developmental delay and autism.

2Q24 MICRODELETION SYNDROME Is also known as monosomy 2q24|del(2)(q24)

Related symptoms:

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


SOURCES: ORPHANET MESH MENDELIAN

More info about 2Q24 MICRODELETION SYNDROME

High match PYCR2-RELATED MICROCEPHALY-PROGRESSIVE LEUKOENCEPHALOPATHY


PYCR2-related microcephaly-progressive leukoencephalopathy is a rare, genetic, syndromic intellectual disability disorder characterized by progressive postnatal microcephaly, cerebral hypomyelination and severe psychomotor developmental delayed with absent speech, as well as axial hypotonia, appendicular hypertonia with hyperextensibility of the wrists and ankles, hyperreflexia, severe muscle wasting and failure to thrive. Associated craniofacial dysmorphism includes triangular facies with bitemporal narrowing, down- or upslanting palpebral fissures, malar hypoplasia, large malformed ears with overfolded helices, upturned bulbous nose, long smooth philtrum and thin vermilion borders.

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about PYCR2-RELATED MICROCEPHALY-PROGRESSIVE LEUKOENCEPHALOPATHY

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Other less relevant matches:

High match BAINBRIDGE-ROPERS SYNDROME; BRPS


Bainbridge-Ropers syndrome (BRPS) is a developmental disorder characterized by delayed psychomotor development, severe intellectual disability with poor or absent speech, hypotonia, feeding difficulties, poor growth, and dysmorphic facial features (summary by Srivastava et al., 2016).

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about BAINBRIDGE-ROPERS SYNDROME; BRPS

High match FAMILIAL VISCERAL MYOPATHY


Familial visceral myopathy is a rare hereditary myopathic degeneration of both gastrointestinal and urinary tracts that causes chronic intestinal pseudo-obstruction. It usually presents after the first decade of life with megaduodenum, megacystis and symptoms such as abdominal distension and/or pain, vomiting, constipation, diarrhea, dysphagia, and/or urinary tract infections.n.

FAMILIAL VISCERAL MYOPATHY Is also known as familial hollow visceral myopathy|megaduodenum and/or megacystis|hereditary hollow visceral myopathy

Related symptoms:

  • Microcephaly
  • Micrognathia
  • Cleft palate
  • Anteverted nares
  • Abnormality of cardiovascular system morphology


SOURCES: ORPHANET MENDELIAN

More info about FAMILIAL VISCERAL MYOPATHY

High match MACROCEPHALY, DYSMORPHIC FACIES, AND PSYCHOMOTOR RETARDATION; MDFPMR


Macrocephaly, dysmorphic facies, and psychomotor retardation (MDFPMR) is an autosomal recessive neurodevelopmental disorder characterized by large head and somatic overgrowth apparent at birth followed by global developmental delay. Affected individuals have characteristic dysmorphic facial features and persistently large head, but increased birth weight normalizes with age. Additional neurologic features, including seizures, hypotonia, and gait ataxia, may also occur. Patients show severe intellectual impairment (summary by Ortega-Recalde et al., 2015).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MACROCEPHALY, DYSMORPHIC FACIES, AND PSYCHOMOTOR RETARDATION; MDFPMR

High match 5P13 MICRODUPLICATION SYNDROME


5p13 microduplication syndrome is a rare partial autosomal trisomy/tetrasomy characterized by global developmental delay, intellectual disability, autistic behavior, muscular hypotonia, macrocephaly and facial dysmorphism (frontal bossing, short palpebral fissures, low set, dysplastic ears, short or shallow philtrum, high arched or narrow palate, micrognathia). Other associated clinical features include sleep disturbances, seizures, aplasia/hypoplasia of the corpus callosum, skeletal abnormalities (large hands and feet, long fingers and toes, talipes).

5P13 MICRODUPLICATION SYNDROME Is also known as dup(5)(p13)|trisomy 5p13

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about 5P13 MICRODUPLICATION SYNDROME

High match CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB; ARCL1B


Autosomal recessive cutis laxa type IB (ARCL1B) is characterized by the presence of severe systemic connective tissue abnormalities, including emphysema, cardiopulmonary insufficiency, birth fractures, arachnodactyly, and fragility of blood vessels. All symptoms refer to disturbed elastic fiber formation (summary by Hoyer et al., 2009).For a complete phenotypic description and a discussion of genetic heterogeneity of autosomal recessive cutis laxa, see ARCL1A (OMIM ).

Related symptoms:

  • Generalized hypotonia
  • Microcephaly
  • Hypertelorism
  • Micrognathia
  • Abnormal facial shape


SOURCES: OMIM MENDELIAN

More info about CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB; ARCL1B

High match X-LINKED INTELLECTUAL DISABILITY, SNYDER TYPE


X-linked intellectual disability, Snyder type is a rare X-linked intellectual disability syndrome characterized by hypotonia, asthenic build with diminished muscle mass, severe generalized psychomotor delay, unsteady gait and moderate to severe intellectual disability, as well as a long, thin, asymmetrical face with prominent lower lip, long fingers and toes and nasal, dysarthric or absent speech. Bone abnormalities (e.g., osteoporosis, kyphoscoliosis, fractures, joint contractures) are also characteristic. Myoclonic, or myoclonic-like, seizures and renal abnormalities have been associated in some patients.

X-LINKED INTELLECTUAL DISABILITY, SNYDER TYPE Is also known as snyder-robinson syndrome|snyder-robinson mental retardation syndrome|srs

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about X-LINKED INTELLECTUAL DISABILITY, SNYDER TYPE

High match NEONATAL MARFAN SYNDROME


Neonatal Marfan syndrome is a rare, severe and life-threatening genetic disease, occuring during the neonatal period, characterized by classical Marfan syndrome manifestations in addition to facial dysmorphism (megalocornea, iridodonesis, ectopia lentis, crumpled ears, loose redundant skin giving a 'senile' facial appearance), flexion joint contractures, pulmonary emphysema, and a severe, rapidly progressive cardiovascular disease (including ascending aortic dilatation and severe mitral and/or tricuspid valve insufficiency). Additionally, skeletal manifestations (arachnodactyly, dolichostenomelia, pectus deformities) are also associated.

NEONATAL MARFAN SYNDROME Is also known as neonatal mfs

Related symptoms:

  • Micrognathia
  • Muscular hypotonia
  • Low-set ears
  • Flexion contracture
  • Feeding difficulties


SOURCES: ORPHANET MENDELIAN

More info about NEONATAL MARFAN SYNDROME

Top 5 symptoms//phenotypes associated to Low-set ears and Arachnodactyly

Symptoms // Phenotype % cases
Hypertelorism Common - Between 50% and 80% cases
Downslanted palpebral fissures Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Low-set ears and Arachnodactyly. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Abnormal facial shape

Uncommon Symptoms - Between 30% and 50% cases


Intellectual disability Bulbous nose Anteverted nares Long fingers High palate Upslanted palpebral fissure Micrognathia Prominent nasal bridge Absent speech Microcephaly Cleft palate Proptosis Brachycephaly Failure to thrive Low-set, posteriorly rotated ears Recurrent fractures High myopia Prominent forehead Long philtrum Small for gestational age Short philtrum Myopia Abnormality of the pinna Strabismus Wide nasal bridge Pectus carinatum Short nose Disproportionate tall stature Camptodactyly of finger Scoliosis Tall stature Muscular hypotonia Frontal bossing

Rare Symptoms - Less than 30% cases


Delayed speech and language development Pes planus Emphysema Mandibular prognathia Hypoplasia of the corpus callosum Cognitive impairment Abnormality of cardiovascular system morphology Macrocephaly Malar flattening Inability to walk Narrow forehead Triangular face Cerebral cortical atrophy Feeding difficulties Kyphoscoliosis Smooth philtrum Aortic root aneurysm Cutis laxa Narrow mouth Difficulty walking Flexion contracture Broad forehead Turricephaly Pectus excavatum Dental crowding Narrow chest Craniosynostosis Growth delay Joint hypermobility Slender build Long foot Sparse eyebrow Joint laxity High, narrow palate Overgrowth Joint stiffness Large hands Severe global developmental delay Long toe Generalized arterial tortuosity Short stature Pulmonary artery dilatation Prominence of the premaxilla Cryptorchidism Ptosis Multiple joint dislocation Pulmonary artery aneurysm Obsessive-compulsive behavior Intussusception Bradycardia Overweight Depressed nasal bridge Dilatation Hernia Inguinal hernia Scarring Convex nasal ridge Oligohydramnios Congenital diaphragmatic hernia Spina bifida Arterial tortuosity Joint dislocation Narrow palpebral fissure Aortic aneurysm Soft skin Abnormality of the vasculature Arterial stenosis Pulmonary insufficiency Narrow naris Biventricular hypertrophy Dysarthria Intellectual disability, profound Gait disturbance Heart murmur Asymmetry of the ears Motor delay Hyporeflexia Deeply set eye Dolichocephaly Decreased testicular size Mitral valve prolapse Blue sclerae Mitral regurgitation Adducted thumb Ectopia lentis Neonatal respiratory distress Focal motor seizures Tricuspid regurgitation Lipoatrophy Megalocornea Hypoxemia Abnormal echocardiogram Enlarged thorax Ascending tubular aorta aneurysm Tricuspid valve prolapse Iridodonesis Abnormal cardiac ventricle morphology Talipes calcaneovarus Crumpled ear Long palm Narrow palm Talipes equinovarus Webbed neck Myoclonus Osteoporosis Intellectual disability, moderate Camptodactyly Synophrys Facial asymmetry Abnormality of movement Unsteady gait Postural instability Generalized myoclonic seizures Bifid uvula Wide intermamillary distance Long hallux Stereotypy Thick lower lip vermilion Broad-based gait Hyperpigmentation of the skin Narrow face Spontaneous abortion Nasal speech Decreased muscle mass Slender finger Epileptic spasms Hyperextensibility of the finger joints Small earlobe Exotropia Kyphosis Short palpebral fissure Generalized tonic-clonic seizures Hearing impairment Nystagmus Spasticity Hyperreflexia Skeletal muscle atrophy Abnormality of the skeletal system Hypertonia Babinski sign Muscular hypotonia of the trunk Thin vermilion border Abnormality iris morphology Thick vermilion border Brain atrophy Postnatal microcephaly Progressive microcephaly Leukodystrophy Mutism CNS hypomyelination Overfolded helix Global brain atrophy Bullet-shaped distal phalanx of the hallux Abnormal oral frenulum morphology Wide mouth Elbow ankylosis Talipes Abnormality of the ribs Choanal atresia Delayed cranial suture closure Femoral bowing Underdeveloped supraorbital ridges Hypoplasia of the zygomatic bone Abnormal renal morphology Narrow pelvis bone Cataract Hand clenching Short neck Behavioral abnormality Microphthalmia Neonatal hypotonia Autistic behavior Coloboma Toe syndactyly Interphalangeal joint contracture of finger Central apnea Small face Postnatal growth retardation Everted lower lip vermilion Low posterior hairline Metopic synostosis Gait ataxia Macrotia High forehead Hyperlordosis Long face Abnormal cerebellum morphology Lumbar hyperlordosis Megalencephaly Communicating hydrocephalus Expressive language delay Cerebellar hypoplasia Long neck Thick corpus callosum Severe expressive language delay Epicanthus Agenesis of corpus callosum Sparse hair Blepharophimosis Astigmatism Sleep disturbance Hypotelorism Posteriorly rotated ears Cerebellar atrophy Highly arched eyebrow Abdominal distention Broad nasal tip Open mouth Short chin Trigonocephaly Hypoplasia of the brainstem Delayed ability to walk Severe postnatal growth retardation Ulnar deviation of the hand Umbilical hernia Vesicoureteral reflux Hydrocephalus Round face Aganglionic megacolon Hydroureter Anonychia Hyperparathyroidism Aplasia/Hypoplasia of the abdominal wall musculature Abdominal situs inversus Megacystis Ataxia Ventriculomegaly Increased arm span



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