Low-set ears, and Toe syndactyly

Diseases related with Low-set ears and Toe syndactyly

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

Top matches:

Pfeiffer syndrome type 1 (PS1) is a mild to moderately severe type of Pfeiffer syndrome (PS; see this term), characterized by bicoronal craniosynostosis, variable finger and toe malformations, and in most cases, normal intellectual development.

PFEIFFER SYNDROME TYPE 1 Is also known as classic pfeiffer syndrome

Related symptoms:

  • Hearing impairment
  • Hypertelorism
  • Low-set ears
  • High palate
  • Depressed nasal bridge


SOURCES: ORPHANET MENDELIAN

More info about PFEIFFER SYNDROME TYPE 1

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about SPINOCEREBELLAR ATAXIA 47; SCA47

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

Other less relevant matches:

Squalene synthase deficiency is an autosomal recessive disorder characterized by profound developmental delay, brain abnormalities, 2/3 syndactyly of the toes, and facial dysmorphisms, as well as low total and LDL-cholesterol and abnormal urine organic acids (Coman et al., 2018). Squalene synthase deficiency has been reported in 3 patients from 2 families.

SQUALENE SYNTHASE DEFICIENCY; SQSD Is also known as neurodevelopmental disorder with low cholesterol and abnormal urine organic acids

Related symptoms:

  • Seizures
  • Global developmental delay
  • Failure to thrive
  • Micrognathia
  • Cataract


SOURCES: OMIM MENDELIAN

More info about SQUALENE SYNTHASE DEFICIENCY; SQSD

Pfeiffer syndrome type 2 (PS2) is a frequent and severe type of Pfeiffer syndrome (PS; see this term), characterized by cloverleaf skull, severe associated functional disorders, and hand/foot and elbow/knee abnormalities.

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hypertelorism
  • Cleft palate


SOURCES: ORPHANET MENDELIAN

More info about PFEIFFER SYNDROME TYPE 2

Crisponi/cold-induced sweating syndrome is an autosomal recessive disorder characterized in the neonatal period by orofacial weakness with impaired sucking and swallowing resulting in poor feeding necessitating medical intervention. Affected infants show a tendency to startle, with contractions of the facial muscles in response to tactile stimuli or during crying, trismus, abundant salivation, and opisthotonus. During the first year, most infants have spiking fevers. These features, referred to as 'Crisponi syndrome' in infancy, can result in early death without advanced care. After the first 2 years, the abnormal muscle contractions and fevers abate, and most patients show normal psychomotor development. From childhood onward, the most disabling symptoms stem from impaired thermoregulation and disabling abnormal sweating, which can be treated with clonidine. Patients have hyperhidrosis, mainly of the upper body, in response to cold temperatures, and sweat very little with heat. Other features include characteristic facial anomalies, such as round face, chubby cheeks, micrognathia, high-arched palate, low-set ears, and depressed nasal bridge, dental decay, camptodactyly, and progressive kyphoscoliosis (summary by Hahn et al., 2010).For a discussion of genetic heterogeneity of Crisponi/cold-induced sweating syndrome, see CISS1 (OMIM ).

Related symptoms:

  • Scoliosis
  • Micrognathia
  • Muscle weakness
  • Pain
  • Low-set ears


SOURCES: OMIM MESH MENDELIAN

More info about CRISPONI/COLD-INDUCED SWEATING SYNDROME 2; CISS2

DIARRHEA 3, SECRETORY SODIUM, CONGENITAL, WITH OR WITHOUT OTHER CONGENITAL ANOMALIES; DIAR3 Is also known as diarrhea 3, secretory sodium, congenital, syndromic|csd|sodium diarrhea, congenital

Related symptoms:

  • Short stature
  • Hypertelorism
  • Micrognathia
  • Cleft palate
  • Low-set ears


SOURCES: OMIM MENDELIAN

More info about DIARRHEA 3, SECRETORY SODIUM, CONGENITAL, WITH OR WITHOUT OTHER CONGENITAL ANOMALIES; DIAR3

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

Pfeiffer syndrome type 3 (PS3) is a severe type of Pfeiffer syndrome (PS; see this term), characterized by bicoronal craniosynostosis, severe associated functional disorders, and hand, foot and elbow abnormalities.

Related symptoms:

  • Intellectual disability
  • Seizures
  • Hearing impairment
  • Hypertelorism
  • Cleft palate


SOURCES: ORPHANET MENDELIAN

More info about PFEIFFER SYNDROME TYPE 3

CLEFT PALATE, CARDIAC DEFECTS, AND MENTAL RETARDATION; CPCMR Is also known as cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Microcephaly
  • Abnormal facial shape


SOURCES: MESH OMIM MENDELIAN

More info about CLEFT PALATE, CARDIAC DEFECTS, AND MENTAL RETARDATION; CPCMR

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

Symptoms // Phenotype % cases
Syndactyly Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Cleft palate Uncommon - Between 30% and 50% cases
High palate Uncommon - Between 30% and 50% cases
Depressed nasal bridge Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Hypertelorism Seizures Intellectual disability Small hand Short stature Broad thumb Short foot Micrognathia Cataract Anal atresia Failure to thrive Broad hallux phalanx Aqueductal stenosis Hallux varus Finger syndactyly High forehead Proptosis Clinodactyly Intestinal malrotation Short nose Choanal atresia Short hallux

Rare Symptoms - Less than 30% cases

Hearing impairment Respiratory distress Cerebral visual impairment Narrow forehead Microphthalmia Feeding difficulties Full cheeks Downslanted palpebral fissures Long philtrum Low-set, posteriorly rotated ears Autistic behavior Epicanthus Motor delay 2-3 toe syndactyly Delayed speech and language development Midface retrusion Brachycephaly Limitation of joint mobility Scoliosis Abnormal facial shape Arnold-Chiari malformation Increased intracranial pressure Laryngomalacia Visual impairment Deeply set eye Wide nasal bridge Tracheomalacia Triangular face Dental malocclusion Short palpebral fissure Underdeveloped nasal alae Sparse scalp hair Hypoplasia of the maxilla Microcornea Large fontanelles Overgrowth Fine hair Delayed eruption of teeth Thin vermilion border Villous atrophy Telecanthus Mild short stature Single transverse palmar crease Metabolic acidosis Abdominal distention Bifid uvula Gastrointestinal hemorrhage Abnormal intestine morphology Cutis laxa Hyponatremia Keratitis Preauricular pit Abnormality of digit Narrow mouth Corneal erosion Optic nerve coloboma Rectovaginal fistula Ureteral duplication Protracted diarrhea Secretory diarrhea Intractable diarrhea Myopia Frontal bossing Abnormality of the dentition Delayed skeletal maturation Dental crowding 2-4 toe cutaneous syndactyly Abnormality of dental enamel Coarctation of aorta Abnormal heart morphology Upslanted palpebral fissure Gastroesophageal reflux Cleft lip Abnormal cardiac septum morphology Broad forehead Hypermetropia Poor speech Cleft upper lip Oral cleft Highly arched eyebrow Sandal gap Atrial septal defect Cutaneous syndactyly Tented upper lip vermilion Sparse eyebrow Trigonocephaly Broad hallux Short 5th finger High anterior hairline Large forehead Achalasia Short 2nd finger Laterally extended eyebrow Abnormality of cardiovascular system morphology Ventricular septal defect Sparse eyelashes Broad long bones Abnormality of dental morphology Hyperostosis Long nose Basal ganglia calcification Narrow nose Spinal cord compression Mild global developmental delay Large earlobe Hypoplasia of teeth Cutaneous syndactyly of toes Cranial hyperostosis Persistent pupillary membrane Abnormality of the skeletal system Macrodontia of permanent maxillary central incisor Fifth finger distal phalanx clinodactyly 4-5 finger syndactyly Polyhydramnios Hydronephrosis Vesicoureteral reflux Amblyopia Horseshoe kidney Stenosis of the external auditory canal Brachyturricephaly Microcephaly Abnormality of the liver Hyperlordosis Acidosis Small face Coloboma Camptodactyly of finger Short philtrum Small for gestational age Severe global developmental delay Arachnodactyly Interphalangeal joint contracture of finger Long fingers Central apnea Hand clenching Behavioral abnormality Abnormal oral frenulum morphology Abnormality iris morphology Bullet-shaped distal phalanx of the hallux Cryptorchidism Hypoplasia of the corpus callosum Hypospadias Posteriorly rotated ears Macrotia Retrognathia Neonatal hypotonia Short neck Dry skin Encephalopathy Short palm Aplasia/Hypoplasia of the thumb Bicoronal synostosis Generalized hypotonia Ataxia Spasticity Ptosis Cognitive impairment Dysarthria Gait ataxia Growth delay Dysmetria Tapered finger Progressive cerebellar ataxia Chorea Epileptic encephalopathy Generalized-onset seizure Diplopia Incoordination Cerebellar vermis atrophy Dilated fourth ventricle Irritability Polymicrogyria Abnormality of metabolism/homeostasis Opisthotonus Round face Lumbar hyperlordosis Sensorimotor neuropathy Elbow flexion contracture Abnormal autonomic nervous system physiology Poor suck Scaling skin Cubitus valgus Radial deviation of finger Limited elbow extension Carious teeth Renal cell carcinoma Thoracolumbar scoliosis Trismus Excessive salivation Unexplained fevers Cold-induced sweating Macrocephaly Vomiting Diarrhea Abnormality of the foot Protruding ear Cutaneous photosensitivity Deviation of the thumb Bicuspid aortic valve Optic nerve hypoplasia Bilateral cryptorchidism Profound global developmental delay Hydrocephalus Malar flattening Visual loss Atresia of the external auditory canal Cloverleaf skull Muscle weakness Feeding difficulties in infancy Pain Flexion contracture Peripheral neuropathy Anteverted nares Hyperhidrosis Kyphoscoliosis Carcinoma Facial palsy Apnea Camptodactyly Oral aversion


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