Low-set ears, and Brachydactyly

Diseases related with Low-set ears and Brachydactyly

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

Top matches:

Atrial fibrillation is the most common sustained cardiac rhythm disturbance, affecting more than 2 million Americans, with an overall prevalence of 0.89%. The prevalence increases rapidly with age, to 2.3% between the ages of 40 and 60 years, and to 5.9% over the age of 65. The most dreaded complication is thromboembolic stroke (Brugada et al., 1997).For a discussion of genetic heterogeneity of atrial fibrillation, see {608583}.

Related symptoms:

  • Short stature
  • Muscle weakness
  • Cleft palate
  • Low-set ears
  • Brachydactyly


SOURCES: OMIM MENDELIAN

More info about ATRIAL FIBRILLATION, FAMILIAL, 9; ATFB9

Deafness-infertility syndrome (DIS) is a very rare syndrome associating sensorineural deafness and male infertility.

DEAFNESS-INFERTILITY SYNDROME Is also known as deafness, sensorineural, and male infertility|chromosome 15q15.3 deletion syndrome|dis

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Sensorineural hearing impairment
  • Low-set ears


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about DEAFNESS-INFERTILITY SYNDROME

Combined oxidative phosphorylation defect type 2 is a rare mitochondrial disorder due to a defect in mitochondrial protein synthesis characterized by severe intrauterine growth retardation, neonatal limb edema and redundant skin on the neck (hydrops), developmental brain defects (corpus callosum agenesis, ventriculomegaly), brachydactyly, dysmorphic facial features with low set ears, severe intractable neonatal lactic acidosis with lethargy, hypotonia, absent spontaneous movements and fatal outcome. Markedly decreased activity of complex I, II + III and IV in muscle and liver have been determined.

COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 2 Is also known as coxpd2|corpus callosum, agenesis of, with dysmorphism and fatal lactic acidosis

Related symptoms:

  • Abnormal facial shape
  • Low-set ears
  • Brachydactyly
  • Ventriculomegaly
  • Edema


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 2

Other less relevant matches:

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about AL-RAQAD SYNDROME; ARS

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

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

Spondyloepimetaphyseal dysplasia, aggrecan type is a new form of skeletal dysplasia characterized by severe short stature, facial dysmorphism and characteristic radiographic findings.

SPONDYLOEPIMETAPHYSEAL DYSPLASIA, AGGRECAN TYPE Is also known as semd, aggrecan type

Related symptoms:

  • Short stature
  • Low-set ears
  • Brachydactyly
  • Macrocephaly
  • Short neck


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about SPONDYLOEPIMETAPHYSEAL DYSPLASIA, AGGRECAN TYPE

IDDGIP is an autosomal dominant syndromic neurodevelopmental disorder characterized by delayed psychomotor development, intellectual disability with speech delay, and behavioral abnormalities. Most patients have variable additional features, including feeding and gastrointestinal difficulties, high pain threshold and/or hypersensitivity to sound, and dysmorphic features, including mild facial abnormalities, strabismus, and small hands and feet (summary by Jansen et al., 2017).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about INTELLECTUAL DEVELOPMENTAL DISORDER WITH GASTROINTESTINAL DIFFICULTIES AND HIGH PAIN THRESHOLD; IDDGIP

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

Terminal osseous dysplasia-pigmentary defects syndrome is characterised by malformation of the hands and feet, pigmentary skin lesions on the face and scalp and digital fibromatosis.

TERMINAL OSSEOUS DYSPLASIA-PIGMENTARY DEFECTS SYNDROME Is also known as odpf syndrome|odpd|osseous dysplasia, digital, with facial pigmentary defects and multiple frenula|todpd|terminal osseous dysplasia and pigmentary defects|odpf

Related symptoms:

  • Hypertelorism
  • Cleft palate
  • Ptosis
  • Low-set ears
  • Flexion contracture


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about TERMINAL OSSEOUS DYSPLASIA-PIGMENTARY DEFECTS SYNDROME

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

Symptoms // Phenotype % cases
Short stature Uncommon - Between 30% and 50% cases
Midface retrusion Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Abnormal facial shape Uncommon - Between 30% and 50% cases
Syndactyly Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Generalized hypotonia Low-set, posteriorly rotated ears Malar flattening Cleft palate

Rare Symptoms - Less than 30% cases

Postaxial polydactyly Ventriculomegaly Agenesis of corpus callosum Relative macrocephaly Neonatal hypotonia Iris coloboma Joint laxity Oral cleft Micromelia Deeply set eye Global developmental delay Sandal gap Cleft lip Polydactyly Thin upper lip vermilion Epicanthus Strabismus Cryptorchidism Hyperlordosis Clinodactyly Posteriorly rotated ears Barrel-shaped chest Sensorineural hearing impairment Abnormality of the skeletal system Broad thumb Gastroesophageal reflux Autism Hyperactivity Functional respiratory abnormality Absent nasal bridge Mandibular prognathia Constipation Absent nasal cartilage Behavioral abnormality Irregular epiphyses Vomiting Platyspondyly Lumbar hyperlordosis Atrial septal defect Spondyloepimetaphyseal dysplasia Anteverted nares Rhizomelia Vertebral clefting Hoarse voice Fever Abnormality of the nail Myopia Metaphyseal widening Mesomelia Delayed speech and language development Short finger Proportionate short stature Feeding difficulties Pain Anxiety Short foot Autistic behavior Multiple joint contractures Flexion contracture Osteoporosis Skeletal dysplasia Telecanthus Camptodactyly Coloboma Camptodactyly of finger Abnormality of skin pigmentation Short toe Anal stenosis Hypertelorism Fibroma Toe clinodactyly Abnormal oral frenulum morphology Camptodactyly of toe Mesomelic arm shortening Mesomelic leg shortening Localized skin lesion Abnormal foot bone ossification Abnormal hand bone ossification Ptosis Abnormality of the antitragus Wide mouth Nystagmus Attention deficit hyperactivity disorder Broad forehead Hypermetropia Small hand Short neck Small nail Broad-based gait Obsessive-compulsive behavior Ataxia Cataract Displacement of the external urethral meatus Renal insufficiency Abnormality of cardiovascular system morphology Obesity Brachycephaly Finger syndactyly Hypoplasia of penis Type II diabetes mellitus Bilateral single transverse palmar creases Hand polydactyly Congenital hepatic fibrosis Severe short stature Abnormality of the pinna Macrocephaly Small for gestational age Reduced sperm motility Moderate hearing impairment Prominent eyelashes Edema Patent ductus arteriosus Acidosis Elevated hepatic transaminase Feeding difficulties in infancy Lethargy Congenital hypoplastic anemia Lactic acidosis Metabolic acidosis Increased serum lactate Redundant skin Hypokinesia Redundant neck skin Microcephaly Growth delay Abnormal spermatogenesis Anemia of inadequate production Short nose Hearing impairment Stroke Tachycardia Syncope Atrial fibrillation Ventricular tachycardia Ventricular extrasystoles Paroxysmal atrial fibrillation Thromboembolic stroke Anemia Male infertility High palate Prominent nasal bridge Synophrys Infertility Bilateral sensorineural hearing impairment Narrow palpebral fissure Azoospermia Progressive sensorineural hearing impairment Motor delay Absent speech Ulnar deviation of the hand or of fingers of the hand Wide intermamillary distance Horizontal ribs Micrognathia Wide nasal bridge Hydrocephalus Hypospadias Micropenis Muscle weakness Cleft upper lip Ambiguous genitalia Hypoplastic ilia Holoprosencephaly Aplasia/Hypoplasia of the corpus callosum Scrotal hypoplasia Adrenal hypoplasia Depressed nasal tip Shield chest Ulnar deviation of the hand Microphallus Lateral clavicle hook Thoracic dysplasia Narrow mouth Respiratory distress Abnormal cardiac septum morphology Unsteady gait Flat face Inability to walk Hypopigmentation of the skin Hyperplasia of the maxilla Ventricular septal defect Respiratory insufficiency Long philtrum Prominent occiput Prominent forehead Respiratory failure Dolichocephaly Narrow chest Pulmonary hypoplasia Short ribs Hypoplasia of the radius Thoracic hypoplasia Localized osteoporosis


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