Hypertelorism, and Clinodactyly of the 5th finger

Diseases related with Hypertelorism and Clinodactyly of the 5th finger

In the following list you will find some of the most common rare diseases related to Hypertelorism 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

High match STEEL SYNDROME

Steel syndrome is characterized by characteristic facies, dislocated hips and radial heads, carpal coalition (fusion of carpal bones), short stature, scoliosis, and cervical spine anomalies. The dislocated hips are resistant to surgical intervention (summary by Flynn et al., 2010).

STEEL SYNDROME Is also known as bilateral hip and radial head dislocations-short stature-scoliosis-carpal coalitions-pes cavus-facial dysmorphism syndrome|dislocated hips and radial heads, carpal coalition, scoliosis, and short stature

Related symptoms:

  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Scoliosis
  • Hypertelorism


SOURCES: OMIM ORPHANET MENDELIAN

More info about STEEL 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:

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, X-LINKED 106; MRX106

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

Jansen's metaphyseal chondrodysplasia (JMC) is a very rare autosomal dominant skeletal dysplasia characterized by short-limbed short stature (due to severe metaphyseal changes that are often discovered in childhood by imaging), waddling gait, bowed legs, contracture deformities of the joints, short hands with clubbed fingers, clinodactyly, prominent upper face and small mandible, as well as chronic parathyroid hormone-independent hypercalcemia, hypercalciuria, and mild hypophosphatemia.

METAPHYSEAL CHONDRODYSPLASIA, JANSEN TYPE Is also known as metaphyseal chondrodysplasia, murk jansen type

Related symptoms:

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


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about METAPHYSEAL CHONDRODYSPLASIA, JANSEN TYPE

High match CHAR SYNDROME

Char syndrome is characterized by the triad of patent ductus arteriosus (PDA), facial dysmorphism and hand anomalies.

CHAR SYNDROME Is also known as patent ductus arteriosus with facial dysmorphism and abnormal fifth digits

Related symptoms:

  • Global developmental delay
  • Hearing impairment
  • Hypertelorism
  • Strabismus
  • Abnormal facial shape


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about CHAR SYNDROME

HYPERFERRITINEMIA WITH OR WITHOUT CATARACT; HRFTC Is also known as hyperferritinemia-cataract syndrome|hyperferritinemia, hereditary, with congenital cataracts|hhcs

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Microcephaly
  • Hypertelorism


SOURCES: OMIM MENDELIAN

More info about HYPERFERRITINEMIA WITH OR WITHOUT CATARACT; HRFTC

Oral-facial-digital (OFD) type 2 is characterized by hand and feet deformities, facial deformities, midline cleft of the upper lip and tongue hamartomas.

OROFACIODIGITAL SYNDROME TYPE 2 Is also known as oral-facial-digital syndrome, type ii|ofd2|orofaciodigital syndrome ii|oral-facial-digital syndrome type 2|ofds ii|mohr syndrome

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Scoliosis
  • Hypertelorism


SOURCES: ORPHANET OMIM MENDELIAN

More info about OROFACIODIGITAL SYNDROME TYPE 2

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

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

Symptoms // Phenotype % cases
Global developmental delay Common - Between 50% and 80% cases
Wide nasal bridge Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
Hearing impairment Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Microcephaly Abnormal facial shape Clinodactyly Low-set ears Abnormality of the skeletal system Brachydactyly Micrognathia Syndactyly Myopia Midface retrusion Generalized hypotonia Finger clinodactyly Autism Abnormality of cardiovascular system morphology Depressed nasal bridge Strabismus High palate Round face Anteverted nares Malar flattening Brachycephaly Obesity Downslanted palpebral fissures Short nose Epicanthus Muscular hypotonia Delayed speech and language development

Rare Symptoms - Less than 30% cases

Nystagmus Joint stiffness Intrauterine growth retardation Mild short stature Hypospadias Macrotia Short palm Misalignment of teeth Ventricular septal defect Retrognathia Wide nose Thick vermilion border Hypoplasia of penis Overgrowth Bicuspid aortic valve High forehead Supernumerary nipple Hypoplasia of the maxilla Growth delay Hyperactivity Cerebellar atrophy Short neck Congenital hip dislocation Thin upper lip vermilion Scoliosis Flexion contracture Congenital hypothyroidism Talipes equinovarus Prominent forehead Narrow forehead Broad forehead Broad nasal tip Tapered finger Cleft palate Cryptorchidism Polydactyly Hypoplasia of the corpus callosum Hydrocephalus Hand polydactyly Coarse hair Depressed nasal ridge Increased serum ferritin Abnormality of the elbow Coarctation of aorta Abnormal heart morphology Pulverulent cataract Highly arched eyebrow Ectopic anus Pectus excavatum Premature birth Iron deficiency anemia Nuclear cataract Sleep disturbance Hypodontia Prominent occiput Persistence of primary teeth Short middle phalanx of the 5th finger Symphalangism of the 5th finger Cataract Photophobia Distal/middle symphalangism of 5th finger Low-set, posteriorly rotated ears Mesoaxial foot polydactyly Severe global developmental delay Congenital cataract Anal atresia Webbed neck Convex nasal ridge Muscular ventricular septal defect Microcytic anemia Parasomnia No permanent dentition High myopia Mesoaxial hand polydactyly Bilateral single transverse palmar creases Abnormality of the fingernails Polycystic ovaries Hypoplastic toenails Non-midline cleft lip Triangular mouth Anemia Visual impairment Seizures Agenesis of corpus callosum Underdeveloped nasal alae Tongue nodules Mesoaxial polydactyly Talon cusp Agenesis of central incisor Partial duplication of the phalanges of the hallux Hypertension Diabetes mellitus Hypothyroidism Mandibular prognathia Skeletal dysplasia Small hand Asthma Short metacarpal Eczema Common atrium Osteoarthritis Short phalanx of finger Type I diabetes mellitus Accelerated skeletal maturation Increased intracranial pressure Short metatarsal Cone-shaped epiphysis Spinal canal stenosis Rhinitis Cone-shaped epiphyses of the phalanges of the hand Blue irides Fair hair Red hair Hypoplasia of the epiglottis Lobulated tongue Conductive hearing impairment Preaxial hand polydactyly Telecanthus Cleft lip Apnea Postaxial polydactyly Abnormal cerebellum morphology Bifid uvula Limb undergrowth Postaxial hand polydactyly Wormian bones Tachypnea Preaxial polydactyly Metaphyseal irregularity Thick eyebrow Flared metaphysis Bilateral postaxial polydactyly Atrioventricular canal defect Abnormality of digit Natal tooth Median cleft lip Arachnoid cyst Postaxial foot polydactyly Abnormality of finger Bifid tongue Preaxial foot polydactyly Bifid nasal tip Abnormality of the larynx Complete atrioventricular canal defect Porencephalic cyst Accessory oral frenulum Everted lower lip vermilion Disproportionate short-limb short stature Toe syndactyly Prominent nasal bridge Dislocated radial head Thoracic scoliosis Hypoplasia of the odontoid process Synostosis of carpal bones Lower limb asymmetry Acetabular dysplasia Shallow acetabular fossae Dislocation of the femoral head Macrocephaly EEG abnormality Autistic behavior Bulbous nose Bilateral talipes equinovarus Short foot Full cheeks Microretrognathia Polyphagia Narrow nose Hypermetropia Astigmatism Decreased testicular size Open mouth Amblyopia Drooling Spastic diplegia Limited elbow extension Coxa vara Slender finger Large fleshy ears Intellectual disability, severe Cerebellar hypoplasia Cerebral cortical atrophy Abnormality of the pinna Synophrys Downturned corners of mouth Generalized myoclonic seizures Underdeveloped supraorbital ridges Malignant hyperthermia Congenital stationary night blindness Abnormality of brain morphology Horizontal eyebrow Multifocal cerebral white matter abnormalities Rhizomelia Sensorineural hearing impairment Pain Pes planus Hyperlordosis Finger syndactyly Hip dislocation Genu valgum Talipes Thin vermilion border Hip dysplasia Bilateral sensorineural hearing impairment Lumbar hyperlordosis High hypermetropia Periventricular leukomalacia Short philtrum Enlarged joints Hypercalcemia Rickets Bowing of the legs Hypophosphatemia Pathologic fracture Hip contracture Hypoparathyroidism Upper limb undergrowth Choanal stenosis Clubbing of fingers Hyperphosphaturia Metaphyseal chondrodysplasia Hypercalciuria Metaphyseal cupping Wide cranial sutures Metaphyseal dysostosis Thick skull base Prominent supraorbital arches in adult Ptosis Congestive heart failure Intellectual disability, mild Long philtrum Patent ductus arteriosus Protruding ear Craniosynostosis Prominent supraorbital ridges Elevated alkaline phosphatase Failure to thrive Large for gestational age Motor delay Frontal bossing Ventriculomegaly Behavioral abnormality Hernia Inguinal hernia Micropenis Narrow mouth Attention deficit hyperactivity disorder Tall stature Pointed chin Lissencephaly Disproportionate tall stature Short long bone Blindness Severe short stature Proptosis Kyphoscoliosis Osteopenia Waddling gait Choanal atresia Bowing of the long bones Short ribs Knee flexion contracture Nephrocalcinosis Osteolysis Chronic rhinitis


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