Epicanthus, and Clinodactyly

Diseases related with Epicanthus and Clinodactyly

In the following list you will find some of the most common rare diseases related to Epicanthus and Clinodactyly that can help you solving undiagnosed cases.

Top matches:

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 49; MRD49

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Abnormal facial shape


SOURCES: OMIM MESH MENDELIAN

More info about MENTAL RETARDATION, X-LINKED 91; MRX91

NEDDFL is a neurodevelopmental disorder characterized by delayed psychomotor development and intellectual disability, poor growth with small head size, dysmorphic facial features, and mild abnormalities of the hands and feet (summary by Stankiewicz et al., 2017).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Microcephaly


SOURCES: OMIM MENDELIAN

More info about NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL LIMB ANOMALIES; NEDDFL

Other less relevant matches:

Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome is a rare, syndromic intellectual disability primarily characterized by moderate to severe intellectual disability, true-to-relative microcephaly and brain abnormalities including a thin corpus callosum, cerebellar hypoplasia, cerebral white matter hypoplasia and multi-focal hyperintensity of cerebral white matter on MRI. Obesity and distinctive craniofacial dysmorphism (including brachycephaly, round face, straight eyebrows, synophrys, hypertelorism, epicanthus, wide and depressed nasal bridge, protruding ears with uplifted lobe, downslanting corners of the mouth) are additional features.

INTELLECTUAL DISABILITY-OBESITY-BRAIN MALFORMATIONS-FACIAL DYSMORPHISM SYNDROME Is also known as autosomal recessive intellectual disability due to trappc9 deficiency

Related symptoms:

  • Seizures
  • Global developmental delay
  • Microcephaly
  • Hypertelorism
  • Abnormal facial shape


SOURCES: ORPHANET MENDELIAN

More info about INTELLECTUAL DISABILITY-OBESITY-BRAIN MALFORMATIONS-FACIAL DYSMORPHISM SYNDROME

Deletion 6q16 syndrome is a Prader-Willi like syndrome characterized by obesity, hyperphagia, hypotonia, small hands and feet, eye/vision anomalies, and global developmental delay.

6Q16 DELETION SYNDROME Is also known as del(6)(q16)|prader-willi-like syndrome due to deletion 6q16|monosomy 6q16

Related symptoms:

  • Global developmental delay
  • Short stature
  • Microcephaly
  • Hypertelorism
  • Nystagmus


SOURCES: ORPHANET MENDELIAN

More info about 6Q16 DELETION 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

A condition with multiple abnormalities including mild to severe intellectual disability, impaired growth from birth leading to short stature, and microcephaly. Affected individuals may also have distinctive facial features (including a small forehead, a short nose, a small lower jaw, a flat area between the nose and mouth (philtrum), and prominent cheeks), sensorineural hearing loss, and heart malformations

WARSAW BREAKAGE SYNDROME Is also known as wabs

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Microcephaly


SOURCES: ORPHANET OMIM MENDELIAN

More info about WARSAW BREAKAGE SYNDROME

Penoscrotal transposition (PST) is a rare congenital genital anomaly in which the scrotum is positioned superior and anterior to the penis. PST may present with a broad spectrum of anomalies ranging from simple shawl scrotum (doughnut scrotum) to very complex extreme transposition with craniofacial, central nervous system, cardiac, gastrointestinal, urological, and other genital (undescended testicles, hypospadias, chordee) malformations. Growth deficiency and intellectual disability may also be noticed (60% of cases).

PENOSCROTAL TRANSPOSITION Is also known as dihydrotestosterone receptor deficiency|testicular feminization syndrome|androgen receptor deficiency|dhtr deficiency|ar deficiency|tfm

Related symptoms:

  • Intellectual disability
  • Neoplasm
  • Micrognathia
  • Cryptorchidism
  • Epicanthus


SOURCES: OMIM ORPHANET MENDELIAN

More info about PENOSCROTAL TRANSPOSITION

Top 5 symptoms//phenotypes associated to Epicanthus and Clinodactyly

Symptoms // Phenotype % cases
Global developmental delay Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Microcephaly Common - Between 50% and 80% cases
Hypertelorism Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Epicanthus and Clinodactyly. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Obesity Delayed speech and language development High palate Abnormal facial shape Strabismus Generalized hypotonia Clinodactyly of the 5th finger Thin upper lip vermilion Muscular hypotonia Short stature Growth delay Upslanted palpebral fissure Absent speech Brachycephaly Short nose

Rare Symptoms - Less than 30% cases

Hypoplasia of the corpus callosum Wide nasal bridge Syndactyly Coloboma Abnormality of skin pigmentation Delayed ability to walk Cerebral cortical atrophy Narrow mouth Abnormality of the skeletal system Myopia Micrognathia Cerebellar hypoplasia Ventricular septal defect Ptosis Nystagmus Long philtrum Wide mouth Downturned corners of mouth Camptodactyly Telecanthus Feeding difficulties Sandal gap Tapered finger Low-set ears Small hand Short foot Round face Thin vermilion border Pallor Dysmetria Agitation Oral-pharyngeal dysphagia Focal impaired awareness seizure Tented upper lip vermilion Finger clinodactyly Clonus Flat face Optic nerve hypoplasia Abnormal cerebellum morphology Horizontal nystagmus Broad-based gait Cyanosis Visual impairment Apnea Chromosome breakage Postnatal growth retardation Smooth philtrum Single transverse palmar crease Tetralogy of Fallot Sloping forehead Bilateral sensorineural hearing impairment Cupped ear Cutis marmorata 2-3 toe syndactyly Optic nerve coloboma Muscular hypotonia of the trunk Small face Premature chromatid separation Hypoplasia of the cochlea Hyperreflexia Fever Tremor Cerebellar atrophy Hypertonia Gait ataxia Rigidity Ankle clonus Abnormality of the genital system Broad face Perineal hypospadias Sparse axillary hair Sparse pubic hair Labial hypoplasia Elevated circulating follicle stimulating hormone level Patellar aplasia Menstrual irregularities Aplasia of the uterus Elevated circulating luteinizing hormone level Pseudohypoparathyroidism Dimple chin Shawl scrotum Nephrogenic diabetes insipidus Abnormality of the urethra Penoscrotal hypospadias Abnormal external genitalia Female external genitalia in individual with 46,XY karyotype Absent facial hair Blind vagina Penoscrotal transposition Incomplete male pseudohermaphroditism Male pseudohermaphroditism Abnormality of the ureter Titubation Wide intermamillary distance Truncal titubation Neoplasm Cryptorchidism Cardiomyopathy Hernia Hypospadias Inguinal hernia Micropenis Pectus carinatum Renal agenesis Prominent occiput Ambiguous genitalia Primary amenorrhea Short neck Renal dysplasia Gynecomastia Bilateral single transverse palmar creases Growth abnormality Bifid scrotum Diabetes insipidus Congestive heart failure Malar flattening Intrauterine growth retardation Malignant hyperthermia Slender finger Intellectual disability, severe Abnormality of the pinna Synophrys Generalized myoclonic seizures Narrow forehead Congenital hypothyroidism Underdeveloped supraorbital ridges Congenital stationary night blindness Overlapping toe Abnormality of brain morphology Horizontal eyebrow Large fleshy ears Multifocal cerebral white matter abnormalities Spasticity Atrial septal defect Abnormal heart morphology Agenesis of corpus callosum Broad hallux Postnatal microcephaly Short philtrum Severe muscular hypotonia Depressed nasal bridge Hyperactivity Aggressive behavior Pointed chin Narrow palpebral fissure Intellectual disability, mild Severe global developmental delay Low posterior hairline Cubitus valgus Short palpebral fissure Short 5th finger Macrodontia Cataract Pes planus Abnormality of the cerebral white matter Hypermetropia Broad nasal tip Prominent nose Underdeveloped nasal alae Posteriorly rotated ears Joint hypermobility Sensorineural hearing impairment Toe clinodactyly Osteoporosis Skeletal dysplasia Camptodactyly of finger Iris coloboma Short toe Multiple joint contractures Anal stenosis Fibroma Abnormal oral frenulum morphology Brachydactyly Camptodactyly of toe Mesomelic arm shortening Mesomelic leg shortening Localized skin lesion Abnormal foot bone ossification Abnormal hand bone ossification Localized osteoporosis Hearing impairment Midface retrusion Flexion contracture Abnormality of digit Macrotia Curly hair Mild microcephaly Periventricular leukomalacia Small cerebral cortex Aplasia of the inferior half of the cerebellar vermis Macrocephaly Abnormality of cardiovascular system morphology Autism EEG abnormality Cleft palate Autistic behavior Prominent nasal bridge Bulbous nose Short palm Full cheeks Microretrognathia Polyphagia Narrow nose Misalignment of teeth Scrotal hypospadias


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Wide nasal bridge and Glomerulonephritis, related diseases and genetic alterations Delayed speech and language development and Hypothyroidism, related diseases and genetic alterations Hydrocephalus and Low-set, posteriorly rotated ears, related diseases and genetic alterations