Low-set ears, and Polydactyly

Diseases related with Low-set ears and Polydactyly

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

Top matches:

Clubfoot is a congenital limb deformity defined as fixation of the foot in cavus, adductus, varus, and equinus (i.e., inclined inwards, axially rotated outwards, and pointing downwards) with concomitant soft tissue abnormalities (Cardy et al., 2007). Clubfoot may occur in isolation or as part of a syndrome (e.g., diastrophic dysplasia, {222600}). Clubfoot has been reported with deficiency of long bones and mirror-image polydactyly (Gurnett et al., 2008; Klopocki et al., 2012).

Related symptoms:

  • Hypertelorism
  • Cleft palate
  • Low-set ears
  • Depressed nasal bridge
  • Downslanted palpebral fissures


SOURCES: OMIM MENDELIAN

More info about CLUBFOOT, CONGENITAL, WITH OR WITHOUT DEFICIENCY OF LONG BONES AND/OR MIRROR-IMAGE POLYDACTYLY; CCF

Meckel-Gruber syndrome is a severe autosomal recessive ciliopathy classically defined by the triad of encephalocele, polydactyly, and renal and biliary ductal dysplasia. Clinical heterogeneity exists even within families (summary by Shaheen et al., 2011).For a general phenotypic description and a discussion of genetic heterogeneity of Meckel syndrome, see MKS1 (OMIM ).

Related symptoms:

  • Microcephaly
  • Cleft palate
  • Low-set ears
  • Talipes equinovarus
  • Short neck


SOURCES: OMIM MENDELIAN

More info about MECKEL SYNDROME, TYPE 8; MKS8

Short-rib thoracic dysplasia (SRTD) with or without polydactyly refers to a group of autosomal recessive skeletal ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. SRTD encompasses Ellis-van Creveld syndrome (EVC) and the disorders previously designated as Jeune syndrome or asphyxiating thoracic dystrophy (ATD), short rib-polydactyly syndrome (SRPS), and Mainzer-Saldino syndrome (MZSDS). Polydactyly is variably present, and there is phenotypic overlap in the various forms of SRTDs, which differ by visceral malformation and metaphyseal appearance. Nonskeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of SRTD are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life (summary by Huber and Cormier-Daire, 2012 and Schmidts et al., 2013).There is phenotypic overlap with the cranioectodermal dysplasias (Sensenbrenner syndrome; see CED1, {218330}).For a discussion of genetic heterogeneity of short-rib thoracic dysplasia with or without polydactyly, see SRTD1 (OMIM ).

Related symptoms:

  • Generalized hypotonia
  • Low-set ears
  • Brachydactyly
  • Ventricular septal defect
  • Respiratory insufficiency


SOURCES: OMIM MENDELIAN

More info about SHORT-RIB THORACIC DYSPLASIA 19 WITH OR WITHOUT POLYDACTYLY; SRTD19

Other less relevant matches:

Low match HYDROLETHALUS

Hydrolethalus (HLS) is a severe fetal malformation syndrome characterized by craniofacial dysmorphic features, central nervous system, cardiac, respiratory tract and limb abnormalities.

Related symptoms:

  • Micrognathia
  • Cleft palate
  • Cryptorchidism
  • Low-set ears
  • Hydrocephalus


SOURCES: ORPHANET MENDELIAN

More info about HYDROLETHALUS

Endocrine-cerebro-osteodysplasia (ECO) syndrome is characterized by various anomalies of the endocrine, cerebral, and skeletal systems resulting in neonatal mortality.

ENDOCRINE-CEREBRO-OSTEODYSPLASIA SYNDROME Is also known as eco syndrome

Related symptoms:

  • Micrognathia
  • Abnormal facial shape
  • Cleft palate
  • Cryptorchidism
  • Low-set ears


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about ENDOCRINE-CEREBRO-OSTEODYSPLASIA SYNDROME

Joubert syndrome is characterized by a specific hindbrain formation, hypotonia, cerebellar ataxia, dysregulated breathing patterns, and developmental delay. Ciliary dysfunction is a key factor in the pathogenesis (Coene et al., 2009).For a phenotypic description and a discussion of genetic heterogeneity of Joubert syndrome, see {213300}.

Related symptoms:

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


SOURCES: OMIM MESH MENDELIAN

More info about JOUBERT SYNDROME 10; JBTS10

Immunodeficiency-centromeric instability-facial anomalies syndrome-3 is an autosomal recessive disorder characterized by recurrent infections in childhood and variable dysmorphic facial features. Laboratory studies show hypomethylation of certain chromosomal regions. Additional features, including delayed development, are variable (summary by Thijssen et al., 2015).For a discussion of genetic heterogeneity of immunodeficiency-centromeric instability-facial anomalies syndrome, see ICF1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hearing impairment
  • Microcephaly
  • Scoliosis


SOURCES: OMIM MENDELIAN

More info about IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 3; ICF3

Laurence-Moon syndrome (LMS) is a very rare genetic multisystemic disorder characterized by pituitary dysfunction, ataxia, peripheral neuropathy, spastic paraplegia, and chorioretinal dystrophy.

Related symptoms:

  • Intellectual disability
  • Short stature
  • Ataxia
  • Nystagmus
  • Strabismus


SOURCES: ORPHANET MENDELIAN

More info about LAURENCE-MOON SYNDROME

Klippel-Feil Syndrome is characterised by improper segmentation of cervical segments resulting in congenitally fused cervical vertebrae.

ISOLATED KLIPPEL-FEIL SYNDROME Is also known as congenital cervical vertebral fusion|klippel-feil sequence|congenital fused cervical segments|klippel-feil malformation|cervical vertebral fusion, autosomal recessive|kfs, autosomal recessive

Related symptoms:

  • Hearing impairment
  • Scoliosis
  • Hypertelorism
  • Sensorineural hearing impairment
  • Cleft palate


SOURCES: OMIM ORPHANET MENDELIAN

More info about ISOLATED KLIPPEL-FEIL SYNDROME

Related symptoms:

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


SOURCES: MESH OMIM MENDELIAN

More info about JOUBERT SYNDROME 3; JBTS3

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

Symptoms // Phenotype % cases
Cleft palate Uncommon - Between 30% and 50% cases
Postaxial polydactyly Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Epicanthus Uncommon - Between 30% and 50% cases
Cryptorchidism Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Cleft lip Hypertelorism Generalized hypotonia Brachydactyly Cleft upper lip Abnormality of the pinna Micromelia Ataxia Global developmental delay Abnormality of cardiovascular system morphology Wide nasal bridge Deeply set eye

Rare Symptoms - Less than 30% cases

Syndactyly Seizures Abnormal facial shape Low-set, posteriorly rotated ears Ventricular septal defect Agenesis of corpus callosum Wide intermamillary distance Hypospadias Hydrocephalus Midface retrusion Micrognathia Nystagmus Sensorineural hearing impairment Molar tooth sign on MRI Oral cleft Renal insufficiency Cognitive impairment Anophthalmia Conductive hearing impairment Polymicrogyria Strabismus Recurrent infections Scoliosis Growth delay Flat face Hearing impairment Microcephaly Short neck Talipes equinovarus Short nose Microphthalmia Abnormality of the kidney Narrow chest Downslanted palpebral fissures Cerebellar vermis hypoplasia Postaxial hand polydactyly Encephalocele Renal dysplasia Congenital hepatic fibrosis Hand polydactyly Bilateral single transverse palmar creases Displacement of the external urethral meatus Abnormality of the antitragus Intrauterine growth retardation Finger syndactyly Immunodeficiency Type II diabetes mellitus Respiratory tract infection Hypoplasia of penis Iris coloboma Brachycephaly Obesity Decreased antibody level in blood Cataract Short stature Hypoplastic ischia Recurrent upper respiratory tract infections Agammaglobulinemia High palate Tapetoretinal degeneration Sprengel anomaly Facial asymmetry Open mouth Anteverted nares Kyphoscoliosis Abnormality of the liver Coloboma Stage 5 chronic kidney disease Retinal dystrophy Highly arched eyebrow Pigmentary retinopathy Apraxia Truncal ataxia Ptosis Oculomotor apraxia Abnormal electroretinogram Nephronophthisis Delayed ability to walk Retinal coloboma Central apnea Episodic tachypnea Elongated superior cerebellar peduncle Neonatal breathing dysregulation Visual impairment Spasticity Anal atresia Ectopic anus Webbed neck Abnormality of the ribs Low posterior hairline Spina bifida Renal hypoplasia/aplasia Hemiplegia/hemiparesis Vertebral fusion Abnormality of the vertebral column Abnormal cranial nerve morphology Fused cervical vertebrae Muscular hypotonia Short sternum Abnormality of the shoulder Abnormal sacrum morphology Congenital muscular torticollis Aplasia of the ulna Cervical C2/C3 vertebral fusion Abnormal vertebral segmentation and fusion Decreased cervical spine mobility Limited neck range of motion Infra-orbital crease Microphallus Enlarged cisterna magna Short ribs Respiratory insufficiency Respiratory distress Long philtrum Prominent forehead Respiratory failure Dolichocephaly Pulmonary hypoplasia Hypoplasia of the radius Hyperechogenic kidneys Relative macrocephaly Thoracic hypoplasia Prominent occiput Thoracic dysplasia Hypoplastic ilia Lateral clavicle hook Horizontal ribs Equinovarus deformity Enlarged kidney Retrognathia Preaxial polydactyly Depressed nasal bridge Hypoplasia of the corpus callosum Pes planus Talipes Hip dysplasia Cardiomegaly Pterygium Bilateral talipes equinovarus Occipital encephalocele Foot polydactyly Patellar hypoplasia Median cleft palate Broad forehead Abdominal distention Depressed nasal ridge Polycystic kidney dysplasia Pericardial effusion Polyhydramnios Bifid uvula Deep philtrum Macrocephaly Depressed nasal tip Barrel-shaped chest Shield chest Ulnar deviation of the hand Ulnar deviation of the hand or of fingers of the hand Feeding difficulties Motor delay Frontal bossing Scrotal hypoplasia Absent speech Rod-cone dystrophy EEG abnormality Feeding difficulties in infancy Hirsutism Thick vermilion border Intellectual disability, profound Adrenal hypoplasia Aplasia/Hypoplasia of the corpus callosum Premature birth Abnormality of the sense of smell Laryngomalacia Absent septum pellucidum Submucous cleft hard palate Anencephaly Abnormality of the respiratory system Arrhinencephaly Unilateral cleft lip Abnormality of the fallopian tube Holoprosencephaly Tracheal atresia Gingival cleft Abnormality of the skeletal system Ventriculomegaly Malar flattening Micropenis Ambiguous genitalia Sandal gap Enlarged fossa interpeduncularis


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