Low-set ears, and Pectus excavatum

Diseases related with Low-set ears and Pectus excavatum

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

Top matches:

Autosomal dominant multiple pterygium syndrome is a rare distal arthrogryposis syndrome characterized by multiple pterygia (typically involving the neck, axilla and popliteal areas), joint contractures, ptosis, camptodactyly of the hands with hypoplastic flexion creases, vertebral fusions, severe scoliosis and short stature.

AUTOSOMAL DOMINANT MULTIPLE PTERYGIUM SYNDROME Is also known as distal arthrogryposis type 8|multiple pterygium syndrome, autosomal dominant|pterygium syndrome, multiple, autosomal dominant

Related symptoms:

  • Short stature
  • Scoliosis
  • Cleft palate
  • Ptosis
  • Flexion contracture


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL DOMINANT MULTIPLE PTERYGIUM SYNDROME

Multiple epiphyseal dysplasia, Al-Gazali type is a skeletal dysplasia characterized by multiple epiphyseal dysplasia (see this term), macrocephaly and facial dysmorphism.

MULTIPLE EPIPHYSEAL DYSPLASIA, AL-GAZALI TYPE Is also known as multiple epiphyseal dysplasia-macrocephaly-distinctive facies syndrome|macrocephaly with multiple epiphyseal dysplasia and distinctive facies|mmedf

Related symptoms:

  • Hypertelorism
  • Abnormal facial shape
  • Low-set ears
  • Motor delay
  • Macrocephaly


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about MULTIPLE EPIPHYSEAL DYSPLASIA, AL-GAZALI TYPE

Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome is a developmental anomalies syndrome characterized by coloboma of the iris and optic nerve, facial dysmorphism (high forehead, microretrognathia, low-set ears), intellectual deficit, agenesis of the corpus callosum (ACC), sensorineural hearing loss, skeletal anomalies and short stature.

CORPUS CALLOSUM AGENESIS-INTELLECTUAL DISABILITY-COLOBOMA-MICROGNATHIA SYNDROME Is also known as mental retardation, x-linked, syndromic 28|graham-cox syndrome|mrxs28

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Scoliosis
  • Nystagmus


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about CORPUS CALLOSUM AGENESIS-INTELLECTUAL DISABILITY-COLOBOMA-MICROGNATHIA SYNDROME

Other less relevant matches:

Noonan syndrome is an autosomal dominant dysmorphic syndrome characterized primarily by dysmorphic facial features, cardiac abnormalities, and short stature, among other features (summary by Shah et al., 1999).For a phenotypic description and a discussion of genetic heterogeneity of Noonan syndrome, see NS1 (OMIM ), which is caused by mutations in the PTPN11 gene (OMIM ). Approximately 50% of cases of Noonan syndrome are caused by mutations in PTPN11.

Related symptoms:

  • Global developmental delay
  • Short stature
  • Hypertelorism
  • Strabismus
  • Abnormal facial shape


SOURCES: OMIM MESH MENDELIAN

More info about NOONAN SYNDROME 3; NS3

Related symptoms:

  • Intellectual disability
  • Short stature
  • Scoliosis
  • Hypertelorism
  • Abnormal facial shape


SOURCES: MESH OMIM MENDELIAN

More info about NOONAN SYNDROME 4; NS4

Congenital symmetric circumferential skin creases is characterized by the folding of excess skin, which leads to ringed creases, primarily of the limbs. Affected individuals also exhibit intellectual disability, cleft palate, and dysmorphic features (summary by Isrie et al., 2015).For a discussion of genetic heterogeneity of congenital symmetric circumferential skin creases, see CSCSC1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about SKIN CREASES, CONGENITAL SYMMETRIC CIRCUMFERENTIAL, 2; CSCSC2

Klippel-Feil syndrome-4 with nemaline myopathy and facial dysmorphism is an autosomal recessive disorder characterized mainly by severe hypotonia apparent from infancy. Klippel-Feil anomaly is primarily defined by fusion of the cervical spine, with associated low posterior hairline and limited neck mobility being observed in about half of patients (summary by Alazami et al., 2015).For a general description and a discussion of genetic heterogeneity of Klippel-Feil syndrome, see KFS1 (OMIM ).

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Microcephaly
  • Scoliosis
  • Micrognathia


SOURCES: OMIM ORPHANET MENDELIAN

More info about KLIPPEL-FEIL ANOMALY-MYOPATHY-FACIAL DYSMORPHISM SYNDROME

NEUROFIBROMATOSIS-NOONAN SYNDROME; NFNS Is also known as neurofibromatosis with noonan phenotype|noonan-neurofibromatosis syndrome

Related symptoms:

  • Global developmental delay
  • Short stature
  • Scoliosis
  • Hypertelorism
  • Muscle weakness


SOURCES: ORPHANET OMIM MENDELIAN

More info about NEUROFIBROMATOSIS-NOONAN SYNDROME; NFNS

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

Native American myopathy (NAM) is a neuromuscular disorder characterized by weakness, arthrogryposis, kyphoscoliosis, short stature, cleft palate, ptosis and susceptibility to malignant hyperthermia during anesthesia.

NATIVE AMERICAN MYOPATHY Is also known as nam|myopathy, congenital, with myopathic facies, scoliosis, and malignant hyperthermia|native american myopathy|congenital myopathy-cleft palate-malignant hyperthermia syndrome

Related symptoms:

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


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about NATIVE AMERICAN MYOPATHY

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

Symptoms // Phenotype % cases
Short stature Common - Between 50% and 80% cases
Downslanted palpebral fissures Common - Between 50% and 80% cases
Short neck Common - Between 50% and 80% cases
Hypertelorism Common - Between 50% and 80% cases
Scoliosis Common - Between 50% and 80% cases

Other less frequent symptoms

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

Common Symptoms - More than 50% cases

Ptosis

Uncommon Symptoms - Between 30% and 50% cases

High palate Macrocephaly Abnormal facial shape Epicanthus Micrognathia Microcephaly Flexion contracture Webbed neck Cryptorchidism Intellectual disability Cleft palate Generalized hypotonia Motor delay Posteriorly rotated ears Polyhydramnios Depressed nasal bridge Wide intermamillary distance Atrial septal defect Hearing impairment Low-set, posteriorly rotated ears Midface retrusion Global developmental delay Broad neck Muscle weakness Abnormality of the pinna Ventricular septal defect Pulmonic stenosis

Rare Symptoms - Less than 30% cases

Low posterior hairline Cognitive impairment Patent ductus arteriosus Arthrogryposis multiplex congenita Hypertrophic cardiomyopathy Pectus excavatum of inferior sternum Delayed speech and language development Blepharophimosis Telecanthus Short palpebral fissure Feeding difficulties Myopathy Long philtrum Bulbous nose Cubitus valgus Leukemia Malar flattening Clinodactyly Agenesis of corpus callosum Craniosynostosis Joint dislocation Inguinal hernia Pterygium Frontal bossing Optic nerve glioma Axillary freckling Proptosis Downturned corners of mouth Long face Superior pectus carinatum Prominent nasolabial fold Talipes Dilatation Prominent forehead Malignant hyperthermia Secundum atrial septal defect Restrictive deficit on pulmonary function testing Inguinal freckling Hernia Lisch nodules Skeletal muscle atrophy Acute lymphoblastic leukemia Acetabular dysplasia Mild short stature Myopathic facies Centrally nucleated skeletal muscle fibers Thoracolumbar scoliosis Gowers sign Congenital contracture Nemaline bodies Fused cervical vertebrae Tented upper lip vermilion Cervical C2/C3 vertebral fusion Joint laxity Limitation of neck motion Open mouth Narrow forehead Specific learning disability Cafe-au-lait spot Relative macrocephaly Neurofibromas Freckling Multiple cafe-au-lait spots Generalized muscle weakness Arachnodactyly Scarring Intussusception Brachycephaly Hyporeflexia Pulmonary insufficiency Areflexia Narrow naris Kyphosis Biventricular hypertrophy Arterial tortuosity Multiple joint dislocation Kyphoscoliosis Prominence of the premaxilla Pulmonary artery aneurysm Generalized arterial tortuosity Respiratory insufficiency Ventriculomegaly Pulmonary artery dilatation Abnormality of the skeletal system Growth delay Arterial stenosis Abnormality of the vasculature Fever Spina bifida Joint hypermobility Recurrent fractures Abnormality of the foot Convex nasal ridge Overgrowth Oligohydramnios Congenital diaphragmatic hernia Bradycardia Narrow palpebral fissure Conductive hearing impairment Cutis laxa Aortic aneurysm Emphysema Aortic root aneurysm Facial palsy Soft skin Ankle contracture Proximal muscle weakness Bilateral ptosis Hypospadias Frequent falls Retrognathia Epiphyseal dysplasia Molar tooth sign on MRI Multiple epiphyseal dysplasia Enlarged joints Nystagmus Sensorineural hearing impairment Visual impairment High forehead Coloboma Abnormality of epiphysis morphology Prominent nasal bridge Iris coloboma Choanal atresia Cupped ear Optic nerve coloboma Strabismus Anteverted nares Short nose Lymphedema Osteoarthritis Mitral valve prolapse Vertebral fusion Syndactyly Camptodactyly Elbow flexion contracture Knee flexion contracture Hemivertebrae Cutaneous syndactyly Abnormal palate morphology Nasal speech Hip contracture Brain atrophy Distal arthrogryposis Spondylolisthesis Multiple pterygia Obesity Pectus carinatum Finger syndactyly Hip dislocation Genu valgum Dolichocephaly Deep philtrum Underdeveloped nasal alae Microcornea Narrow mouth Osteopenia Pes planus Microtia Carious teeth Flat face Short palm Tapered finger Microdontia Microphthalmia Scrotal hypoplasia Overfolded helix Ureterocele Hypertension Cardiomyopathy Thin upper lip vermilion Falls Everted lower lip vermilion Upslanted palpebral fissure Hypoplasia of the corpus callosum Cystic hygroma Thick lower lip vermilion Scaphocephaly Sagittal craniosynostosis Myeloproliferative disorder Hypoplastic nasal bridge Juvenile myelomonocytic leukemia Atrial septal dilatation Dysplastic pulmonary valve Dental malocclusion Sparse and thin eyebrow Wide nasal bridge Sparse eyebrow Bilateral cryptorchidism Abnormality of coagulation Prolonged bleeding time Curly hair Blue irides High anterior hairline Seizures Multiple skeletal anomalies


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