Low-set ears, and Overgrowth

Diseases related with Low-set ears and Overgrowth

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

Top matches:

Tatton-Brown-Rahman syndrome is characterized by tall stature, a distinctive facial appearance, and intellectual disability (Tatton-Brown et al., 2014).

TALL STATURE-INTELLECTUAL DISABILITY-FACIAL DYSMORPHISM SYNDROME Is also known as dnmt3a-related overgrowth syndrome|tatton-brown-rahman overgrowth syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Generalized hypotonia
  • Scoliosis


SOURCES: ORPHANET OMIM MENDELIAN

More info about TALL STATURE-INTELLECTUAL DISABILITY-FACIAL DYSMORPHISM SYNDROME

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

17p13.3 microduplication syndrome is characterized by variable psychomotor delay and dysmorphic features.

17P13.3 MICRODUPLICATION SYNDROME Is also known as 17p13.3 duplication syndrome|dup(17)(p13.3)|trisomy 17p13.3

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about 17P13.3 MICRODUPLICATION SYNDROME

Other less relevant matches:

OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE Is also known as odod, autosomal recessive|oculodentoosseous dysplasia, autosomal recessive|oddd, autosomal recessive

Related symptoms:

  • Global developmental delay
  • Short stature
  • Failure to thrive
  • Micrognathia
  • Cataract


SOURCES: OMIM MESH MENDELIAN

More info about OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE

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

Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome, also known as Beare-Stevenson syndrome (BSS), is a severe form of syndromic craniosynostosis, characterized by a variable degree of craniosynostosis, with cloverleaf skull reported in over 50% of cases, cutis gyrata, corduroy-like linear striations in the skin, acanthosis nigricans, skin tags, and choanal stenosis or atresia). Additional features include facial features similar to Crouzon disease, ear defects (conductive hearing loss, posteriorly angulated ears, stenotic auditory canals, preauricular furrows, and narrow ear canals), hirsutism, a prominent umbilical stump, and genitorurinary anomalies (anteriorly placed anus, hypoplasic labia, hypospadias). BSS is associated with a poor outcome as patients present an elevated risk for sudden death in their first year of life. Significant developmental delay and intellectual disability are observed in most patients who survive infancy.

CUTIS GYRATA-ACANTHOSIS NIGRICANS-CRANIOSYNOSTOSIS SYNDROME Is also known as beare-stevenson syndrome|cutis gyrata syndrome of beare and stevenson|beare-stevenson cutis gyrata syndrome

Related symptoms:

  • Global developmental delay
  • Hypertelorism
  • Strabismus
  • Cleft palate
  • Cryptorchidism


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about CUTIS GYRATA-ACANTHOSIS NIGRICANS-CRANIOSYNOSTOSIS SYNDROME

1p31p32 microdeletion syndrome is a rare chromosomal anomaly syndrome, resulting from the partial deletion of the short arm of chromosome 1, characterized by developmental delay, corpus callosum agenesis/hypoplasia and craniofacial dysmorphism, such as macrocephaly (caused by hydrocephalus or ventriculomegaly), low-set ears, anteverted nostrils and micrognathia. Urinary tract defects (e.g. vesicoureteral reflux, urinary incontinence) are also frequently associated. Other reported variable manifestations include hypotonia, tethered spinal cord, Chiari type I malformation and seizures.

1P31P32 MICRODELETION SYNDROME Is also known as monosomy 1p31p32|del(1)(p31p32)

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Failure to thrive


SOURCES: OMIM ORPHANET MENDELIAN

More info about 1P31P32 MICRODELETION SYNDROME

17q11.2 microduplication syndrome is characterized by dysmorphic features and intellectual deficit.

17Q11.2 MICRODUPLICATION SYNDROME Is also known as trisomy 17q11.2|nf1 microdeletion syndrome|van asperen syndrome|grisart-destrÉe syndrome|dup(17)(q11.2)|neurofibromatosis 1 microdeletion syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about 17Q11.2 MICRODUPLICATION SYNDROME

Autosomal recessive spastic paraplegia type 20 (SPG20) is a type of complex hereditary spastic paraplegia characterized by an onset in infancy of progressive spastic paraparesis associated with distal amyotrophy, psuedobulbar palsy, motor and cognitive delays, mild cerebellar signs (dysarthria, dysdiadochokinesia, mild intention tremor), short stature and subtle skeletal abnormalities (pes cavus, mild talipes equinovarus, kyphoscoliosis). SPG20 is due to mutations in the SPG20 gene (13q13.1), which encodes the protein spartin.

AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 20 Is also known as troyer syndrome|childhood-onset spastic paraparesis-distal muscle wasting syndrome|spastic paraparesis, childhood-onset, with distal muscle wasting|spg20|spastic paraplegia, autosomal recessive, troyer type

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 20

Familial visceral myopathy is a rare inherited form of myopathic pseudoobstruction, characterized by impaired function of enteric smooth muscle cells resulting in abnormal intestinal mobility, severe abdominal pain, malnutrition, and even death (Lehtonen et al., 2012). Visceral myopathy represents a phenotypic spectrum of disease characterized by inter- and intrafamilial variability, in which the most severely affected patients exhibit prenatal bladder enlargement, intestinal malrotation, neonatal functional gastrointestinal obstruction, and chronic dependence on total parenteral nutrition (TPN) and urinary catheterization (summary by Wangler et al., 2014).Another form of visceral myopathy with functional gastrointestinal obstruction is associated with external ophthalmoplegia (OMIM ).Functional gastrointestinal obstruction also occurs in association with other abnormalities, such as 'prune belly' syndrome (OMIM ) and Barrett esophagus (Mungan syndrome; {611376}). Chronic intestinal pseudoobstruction can also be neuropathic in origin (see {609629}).

VISCERAL MYOPATHY; VSCM Is also known as megacystis-microcolon-intestinal hypoperistalsis syndrome|infantile visceral myopathy|mmih|megaduodenum and/or megacystis|pseudoobstruction, idiopathic intestinal|berdon syndrome

Related symptoms:

  • Microcephaly
  • Failure to thrive
  • Micrognathia
  • Cleft palate
  • Pain


SOURCES: OMIM MENDELIAN

More info about VISCERAL MYOPATHY; VSCM

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

Symptoms // Phenotype % cases
Generalized hypotonia Common - Between 50% and 80% cases
Hypertelorism Common - Between 50% and 80% cases
Downslanted palpebral fissures Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Abnormal facial shape Microcephaly Failure to thrive Anteverted nares Frontal bossing Seizures Micrognathia Ventriculomegaly Cognitive impairment Delayed speech and language development Narrow mouth Prominent forehead Tall stature High palate Hernia Macrocephaly Hydrocephalus Short stature Joint hypermobility Proptosis Inguinal hernia Motor delay Thin vermilion border Attention deficit hyperactivity disorder Prominent nasal bridge Malar flattening Arachnodactyly Cerebellar atrophy Muscular hypotonia Scoliosis Cryptorchidism Umbilical hernia Dilatation Pectus excavatum Abnormality of the skeletal system Hypertension Disproportionate tall stature Hydronephrosis Midface retrusion

Rare Symptoms - Less than 30% cases

Hypoplasia of the corpus callosum Growth delay Pes cavus Narrow nose Abnormality of cardiovascular system morphology Specific learning disability Metopic synostosis Short foot Behavioral abnormality Agenesis of corpus callosum Overbite Long philtrum Ptosis Clinodactyly Vesicoureteral reflux Spasticity Cleft palate Short nose Low-set, posteriorly rotated ears Strabismus Abnormality of dental enamel Epicanthus Sparse eyelashes Hyperactivity Intellectual disability, mild Craniosynostosis Long foot High forehead Facial asymmetry Broad forehead Mandibular prognathia Polyhydramnios Coarse facial features Thin upper lip vermilion Round face Narrow palpebral fissure Depressed nasal bridge Flexion contracture Myopia Gait ataxia Macrotia Upslanted palpebral fissure Kyphoscoliosis Abnormal cerebellum morphology Skeletal muscle atrophy Large hands Sparse eyebrow Dysphagia Difficulty walking Joint laxity Constipation Triangular face Dysarthria Focal T2 hyperintense basal ganglia lesion Spinal neurofibromas Sleep disturbance Babinski sign Dysmetria Distal amyotrophy Camptodactyly Lower limb muscle weakness Paraplegia Genu valgum Abnormality of the foot Brachydactyly Inguinal freckling Spastic paraplegia Muscle weakness Hyperreflexia Anxiety Joint hyperflexibility Plexiform neurofibroma Cutis marmorata Intraventricular hemorrhage Ureterocele Broad face Arachnoid cyst Arnold-Chiari type I malformation Syringomyelia Absent septum pellucidum Obsessive-compulsive behavior Partial absence of the septum pellucidum Overfolded helix Abnormality of the urinary system Aplasia/Hypoplasia of the corpus callosum Short chin Renal hypoplasia Pigmentary retinopathy Hip dysplasia Craniofacial asymmetry Hearing impairment Deviated nasal septum Bone cyst Neurofibrosarcoma Optic nerve glioma Subcutaneous neurofibromas Axillary freckling Lisch nodules Thick nasal alae Bifid nose Macroorchidism Neoplasm Broad neck Alopecia of scalp Neurofibromas Sparse and thin eyebrow Cafe-au-lait spot Hypoplasia of dental enamel Prominent nose Abnormal heart morphology Gliosis Abnormality of brain morphology Psychosis Recurrent urinary tract infections Malnutrition Intestinal obstruction Portal hypertension Hypoalbuminemia External ophthalmoplegia Pancreatitis Horseshoe kidney Aganglionic megacolon Hydroureter Interphalangeal joint contracture of finger Intestinal malrotation Abdominal distention Narrow chest Ophthalmoplegia Abnormality of the liver Joint stiffness Weight loss Anonychia Hyperparathyroidism Pneumonia Microcolon Hypoperistalsis Gastrointestinal obstruction Neuroma Barrett esophagus Urethral obstruction Megacystis Prune belly Pollakisuria Episodic abdominal pain Urinary retention Intestinal pseudo-obstruction Abdominal situs inversus Aplasia/Hypoplasia of the abdominal wall musculature Peritonitis Volvulus Achalasia Chronic constipation Abdominal pain Diarrhea Choreoathetosis Abnormality of the hand Cerebellar vermis atrophy Scleroderma Ankle clonus Spastic diplegia Hammertoe Impaired vibratory sensation Emotional lability Slurred speech Premature loss of teeth Drooling Spastic paraparesis Hoarse voice Clonus Spastic gait Hallucinations Progressive muscle weakness Lower limb spasticity Ankle contracture Upper limb muscle weakness Vomiting Narrow jaw Myopathy Fever Peripheral neuropathy Pain Hyperplasia of midface Hyperextensible hand joints Morphea Suicidal ideation Panic attack Dysuria Knee clonus Abnormal hand morphology Abnormality of the nares Mood swings Upper limb spasticity Speech apraxia Spastic dysarthria Abnormality of the thumb Urinary incontinence Gingival overgrowth Polymicrogyria Brachycephaly Microcornea Delayed eruption of teeth Small hand Toe syndactyly Telecanthus Deeply set eye Delayed skeletal maturation Dental malocclusion Microphthalmia Syndactyly Abnormality of the dentition Cataract Large for gestational age Lissencephaly Congenital hip dislocation Hypoplasia of the maxilla Underdeveloped nasal alae Hypoplasia of penis Spinal cord compression Broad long bones Cranial hyperostosis Cutaneous syndactyly of toes Hypoplasia of teeth Large earlobe Mild global developmental delay Basal ganglia calcification Short palpebral fissure Long nose Hyperostosis Abnormality of dental morphology Dental crowding Large fontanelles Sparse scalp hair Fine hair Pointed chin Wide nose Macrodontia of permanent maxillary central incisor Short columella Absent speech Kyphosis Ataxia Premature rupture of membranes Everted upper lip vermilion Maternal diabetes Long palpebral fissure Posteriorly rotated ears Deep philtrum Premature birth Thick eyebrow Abnormal cardiac septum morphology Blepharophimosis Atrial septal defect Ventricular septal defect Cerebellar hypoplasia Cerebral cortical atrophy Autism Expressive language delay Micropenis Clinodactyly of the 5th finger Short neck Wide nasal bridge Severe expressive language delay Thick corpus callosum Long neck Slender build Pes planus Communicating hydrocephalus Megalencephaly Long fingers Lumbar hyperlordosis High myopia Long face Hyperlordosis Persistent pupillary membrane Fifth finger distal phalanx clinodactyly Retinopathy Limited elbow extension Abnormality of the skull Hearing abnormality Turricephaly Underdeveloped supraorbital ridges Anteriorly placed anus Natal tooth Bifid scrotum Hypoplasia of the zygomatic bone Melanocytic nevus Redundant skin Reduced number of teeth Abnormality of vision Arnold-Chiari malformation Acanthosis nigricans Narrow palate Skin tags Choanal stenosis Subcutaneous nodule Palmoplantar cutis laxa Jaundice Polydactyly Hypertonia Preauricular skin furrow Palmoplantar cutis gyrata Prominent scrotal raphe Prominent umbilicus Craniofacial dysostosis Breech presentation Visceral angiomatosis Oxycephaly Thickened helices Cloverleaf skull Redundant neck skin Aplasia/Hypoplasia of the earlobes Abnormality of the pancreas Abnormality of the nail Abnormality of the face 4-5 finger syndactyly Bradycardia Aortic root aneurysm Emphysema Aortic aneurysm Cutis laxa Joint dislocation Spina bifida Congenital diaphragmatic hernia Abnormality of the vasculature Oligohydramnios Convex nasal ridge Recurrent fractures Bulbous nose Scarring Abnormality of the pinna 2-4 toe cutaneous syndactyly Soft skin Arterial stenosis Choanal atresia Pulmonary artery dilatation Small nail Epidermal acanthosis Palmoplantar keratoderma Dolichocephaly Abnormality of the eye Respiratory distress Optic atrophy Generalized arterial tortuosity Pulmonary insufficiency Pulmonary artery aneurysm Prominence of the premaxilla Multiple joint dislocation Intussusception Arterial tortuosity Biventricular hypertrophy Narrow naris Megaduodenum


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