Epicanthus, and Clinodactyly of the 5th finger

Diseases related with Epicanthus and Clinodactyly of the 5th finger

In the following list you will find some of the most common rare diseases related to Epicanthus and Clinodactyly of the 5th finger that can help you solving undiagnosed cases.

Top 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

Other less relevant matches:

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

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

High match LIG4 SYNDROME

LIG4 syndrome is a hereditary disorder associated with impaired DNA double-strand break repair mechanisms and characterized by microcephaly, unusual facial features, growth and developmental delay, skin anomalies, and pancytopenia, which is associated with combined immunodeficiency (CID).

LIG4 SYNDROME Is also known as dna ligase iv deficiency|ligase 4 syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Microcephaly
  • Growth delay
  • Micrognathia


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about LIG4 SYNDROME

High match GORDON SYNDROME

Gordon syndrome, also known as distal arthrogryposis type 3, is an extremely rare multiple congenital malformation syndrome characterized by congenital contractures of hand and feet with variable degrees of severity of camptodactyly, clubfoot and, less frequently, cleft palate. Intelligence is normal but in some cases, additional abnormalities, such as short stature, kyphoscoliosis, ptosis, micrognathia, and cryptorchidism may also be present. Gordon syndrome, Marden-Walker syndrome and arthrogryposis with oculomotor limitation and electroretinal anomalies clinically and genetically overlap, and could represent variable expressions of the same condition.

GORDON SYNDROME Is also known as distal arthrogryposis type iia|arthrogryposis multiplex congenita, distal, type iia|camptodactyly, cleft palate, and clubfoot|gordon syndrome|distal arthrogryposis type 3|camptodactyly-cleft palate-clubfoot syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Scoliosis


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about GORDON SYNDROME

Peripheral dysostosis is a rare primary bone dysplasia characterized by cone-shaped epiphyses of the phalanges, hyperextensibility and hyperflexibility of the fingers and marked delay in ossification of hand bones. Short-limbed short stature, very stubby, short fingers and toes, flat face and nose and a large skull may also be associated. There have been no further descriptions in the literature since 1980.

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Growth delay
  • Hypertelorism


SOURCES: ORPHANET OMIM MENDELIAN

More info about PERIPHERAL DYSOSTOSIS

Aarskog-Scott syndrome (AAS) is a rare developmental disorder characterized by facial, limbs and genital features, and a disproportionate acromelic short stature.

AARSKOG-SCOTT SYNDROME Is also known as aarskog syndrome|faciodigitogenital syndrome|faciogenital dysplasia

Related symptoms:

  • Short stature
  • Hypertelorism
  • Strabismus
  • Cleft palate
  • Cryptorchidism


SOURCES: ORPHANET MENDELIAN

More info about AARSKOG-SCOTT SYNDROME

The duplication/inversion 15q11 or isodicentric 15 chromosome (inv dup(15) or idic(15)) syndrome is a chromosomal disorder with distinctive clinical findings characterized by early central hypotonia, developmental delay and intellectual deficit, epilepsy, and autistic behavior.

DUPLICATION/INVERSION 15Q11 Is also known as invdup(15)|non-distal tetrasomy 15q|isodicentric 15 chromosome|non-telomeric tetrasomy 15q|idic(15)

Related symptoms:

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


SOURCES: ORPHANET MESH MENDELIAN

More info about DUPLICATION/INVERSION 15Q11

Top 5 symptoms//phenotypes associated to Epicanthus and Clinodactyly of the 5th finger

Symptoms // Phenotype % cases
Global developmental delay Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Brachycephaly Common - Between 50% and 80% cases
Cryptorchidism Common - Between 50% and 80% cases
Microcephaly Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Epicanthus and Clinodactyly of the 5th finger. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Short stature Delayed speech and language development High palate Obesity Round face Micrognathia Hypertelorism Downslanted palpebral fissures Short foot Thin vermilion border Long philtrum Strabismus Small hand Hypoplasia of the maxilla Seizures Deeply set eye Wide nasal bridge Growth delay

Rare Symptoms - Less than 30% cases

Shawl scrotum Hypothyroidism Absent speech Clinodactyly Low-set, posteriorly rotated ears Abnormality of the skeletal system Cleft palate Hernia Hypospadias Hyperactivity Anteverted nares Brachydactyly Triangular face Underdeveloped nasal alae Ptosis Talipes equinovarus Short neck Frontal bossing Pectus excavatum Abnormality of the dentition Camptodactyly of finger Syndactyly Single transverse palmar crease Talipes Feeding difficulties Telecanthus Finger syndactyly Delayed eruption of teeth Short phalanx of finger Inguinal hernia Generalized hypotonia Hypoplasia of the corpus callosum Short palm Congenital hypothyroidism Synophrys Cerebral cortical atrophy Cerebellar hypoplasia Abnormality of brain morphology Autistic behavior Abnormality of cardiovascular system morphology Nystagmus Low-set ears Autism Myopia Narrow nose Muscular hypotonia Abnormal facial shape Tapered finger Broad nasal tip Unilateral renal agenesis Arthrogryposis multiplex congenita Neurodevelopmental delay Abnormal vertebral morphology Ophthalmoplegia 2-3 toe syndactyly Joint hypermobility Abnormality of the foot Interphalangeal joint contracture of finger Precocious puberty Webbed neck Facial asymmetry Bifid uvula Drooling Limitation of joint mobility Dandy-Walker malformation Stereotypy Abnormality of skin pigmentation Tetralogy of Fallot Lumbar hyperlordosis Protruding ear Gonadal dysgenesis Abnormality of bone marrow cell morphology Cutaneous photosensitivity Telangiectasia Low anterior hairline Myelodysplasia Psoriasiform dermatitis Leukocytosis Combined immunodeficiency Telangiectasia of the skin Biparietal narrowing Severe combined immunodeficiency Acute leukemia Abnormality of chromosome stability Bird-like facies Retinopathy Large beaked nose Hearing impairment Scoliosis Self-biting Flexion contracture Severe expressive language delay Intellectual disability, mild Echolalia Kyphoscoliosis Camptodactyly Hyperlordosis Knee flexion contracture Congenital hip dislocation Decreased muscle mass Pterygium Umbilical hernia Short metatarsal Cone-shaped epiphysis Mild short stature Spinal canal stenosis Rhinitis Cone-shaped epiphyses of the phalanges of the hand Blue irides Fair hair Red hair Chronic rhinitis Cognitive impairment Congestive heart failure Behavioral abnormality Pes planus Accelerated skeletal maturation Abnormal vertebral segmentation and fusion Abnormality of the cervical spine Attention deficit hyperactivity disorder Broad forehead Joint hyperflexibility Cleft upper lip Oral cleft High anterior hairline Genu recurvatum Everted lower lip vermilion Hyperextensible skin Broad palm Megalocornea External ear malformation Increased intracranial pressure Type I diabetes mellitus Overlapping toe Intrauterine growth retardation Bilateral talipes equinovarus Broad foot Cutaneous finger syndactyly Submucous cleft hard palate Distal arthrogryposis Thoracolumbar scoliosis Down-sloping shoulders Abnormality of the rib cage Decreased hip abduction Ulnar deviation of the hand or of fingers of the hand Camptodactyly of toe Depressed nasal bridge Hypertension Short philtrum Ventricular septal defect Short nose Malar flattening Midface retrusion Diabetes mellitus Aggressive behavior Mandibular prognathia Skeletal dysplasia Joint stiffness Asthma Short metacarpal Eczema Pancytopenia Hypogonadism Osteoarthritis Type II diabetes mellitus Hyperostosis Hypoplasia of penis Broad face Abnormal cerebellum morphology Cyanosis Broad-based gait Clonus Horizontal nystagmus Finger clinodactyly Tented upper lip vermilion Optic nerve hypoplasia Focal impaired awareness seizure Oral-pharyngeal dysphagia Agitation Ankle clonus Delayed ability to walk Titubation Dysmetria Truncal titubation Neoplasm Cardiomyopathy Micropenis Pectus carinatum Wide intermamillary distance Renal agenesis Ambiguous genitalia Primary amenorrhea Abnormality of the genital system Renal dysplasia Gynecomastia Bilateral single transverse palmar creases Growth abnormality Flat face Pallor Diabetes insipidus EEG abnormality Intellectual disability, severe Thin upper lip vermilion Abnormality of the pinna Downturned corners of mouth Generalized myoclonic seizures Narrow forehead Underdeveloped supraorbital ridges Malignant hyperthermia Congenital stationary night blindness Horizontal eyebrow Large fleshy ears Multifocal cerebral white matter abnormalities Macrocephaly Macrotia Prominent nasal bridge Apnea Bulbous nose Full cheeks Microretrognathia Polyphagia Misalignment of teeth Visual impairment Hyperreflexia Fever Tremor Cerebellar atrophy Hypertonia Gait ataxia Rigidity Muscular hypotonia of the trunk Bifid scrotum Prominent occiput Lymphoma Broad long bones Large fontanelles Dental crowding Abnormality of dental enamel Sparse eyelashes Abnormality of dental morphology Long nose Basal ganglia calcification Spinal cord compression Mild global developmental delay Large earlobe Hypoplasia of teeth Cutaneous syndactyly of toes Cranial hyperostosis Persistent pupillary membrane Fine hair Macrodontia of permanent maxillary central incisor Fifth finger distal phalanx clinodactyly 4-5 finger syndactyly 2-4 toe cutaneous syndactyly Hepatomegaly Immunodeficiency Recurrent infections Thrombocytopenia Upslanted palpebral fissure Abnormality of the nervous system Erythema Leukemia Malabsorption Lymphadenopathy Sparse scalp hair Short palpebral fissure Abnormality of the ureter Penoscrotal hypospadias Male pseudohermaphroditism 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 Perineal hypospadias Dimple chin Nephrogenic diabetes insipidus Abnormality of the urethra Abnormal external genitalia Overgrowth Female external genitalia in individual with 46,XY karyotype Absent facial hair Blind vagina Penoscrotal transposition Incomplete male pseudohermaphroditism Scrotal hypospadias Failure to thrive Cataract Microphthalmia Delayed skeletal maturation Narrow mouth Toe syndactyly Microcornea Dental malocclusion Severe receptive language delay


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Congestive heart failure and Pruritus, related diseases and genetic alterations Delayed speech and language development and Hypothyroidism, related diseases and genetic alterations Macrocephaly and Psychosis, related diseases and genetic alterations