Epicanthus, and Short metacarpal

Diseases related with Epicanthus and Short metacarpal

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

Top matches:

Medium match ACRODYSOSTOSIS

Acrodysostosis (ACRDYS) is a rare primary bone dysplasia characterized by severe brachydactyly, peripheral dysostosis with facial dysostosis, nasal hypoplasia, and developmental delay.

ACRODYSOSTOSIS Is also known as acrodysplasia|arkless-graham syndrome|maroteaux-malamut syndrome

Related symptoms:

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


SOURCES: ORPHANET MENDELIAN

More info about ACRODYSOSTOSIS

SHORT STATURE-BRACHYDACTYLY-OBESITY-GLOBAL DEVELOPMENTAL DELAY SYNDROME Is also known as sbidds

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about SHORT STATURE-BRACHYDACTYLY-OBESITY-GLOBAL DEVELOPMENTAL DELAY SYNDROME

PROGRESSIVE SPONDYLOEPIMETAPHYSEAL DYSPLASIA-SHORT STATURE-SHORT FOURTH METATARSALS-INTELLECTUAL DISABILITY SYNDROME Is also known as spondyloepimetaphyseal dysplasia, progressive, with short stature, facial dysmorphism, short fourth metatarsals, and mental retardation, with or without craniosynostosis

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about PROGRESSIVE SPONDYLOEPIMETAPHYSEAL DYSPLASIA-SHORT STATURE-SHORT FOURTH METATARSALS-INTELLECTUAL DISABILITY SYNDROME

Other less relevant matches:

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

15q13.3 microdeletion (microdel15q13.3) syndrome is characterized by a wide spectrum of neurodevelopmental disorders with no or subtle dysmorphic features.

15Q13.3 MICRODELETION SYNDROME Is also known as del(15)(q13.3)|chromosome 15q13.3 microdeletion syndrome|monosomy 15q13.3

Related symptoms:

  • Seizures
  • Schizophrenia
  • Bipolar affective disorder


SOURCES: MESH MENDELIAN

More info about 15Q13.3 MICRODELETION SYNDROME

Medium match SILLENCE SYNDROME

Sillence syndrome (brachydactyly-symphalangism syndrome) resembles type A1 brachydactyly (variable shortening of the middle phalanges of all digits) with associated symphalangism (producing a distal phalanx with the shape of a chess pawn). Scoliosis, clubfoot and tall stature are also characteristic.

SILLENCE SYNDROME Is also known as synostoses, multiple, with brachydactyly|symphalangism-brachydactyly syndrome|wl syndrome|brachydactyly-symphalangism syndrome|facioaudiosymphalangism syndrome|deafness-symphalangism syndrome of herrmann

Related symptoms:

  • Hearing impairment
  • Scoliosis
  • Strabismus
  • Epicanthus
  • Brachydactyly


SOURCES: OMIM ORPHANET MENDELIAN

More info about SILLENCE SYNDROME

Cerebrofacioarticular syndrome is a rare multiple congenital anomalies syndrome characterized by mild to severe intellectual disability, a distinctive facial gestalt (blepharophimosis, maxillary hypoplasia, telecanthus, microtia and atresia of the external auditory meatus) as well as skeletal and articular abnormalities (e.g. camptodactyly of the fingers, cutaneous syndactyly, talipes equinovarus, flexion contractures of the proximal interphalangeal joints, hip or elbow subluxation, joint laxity). Affected individuals also present neonatal hypotonia, variable respiratory manifestations, chronic feeding difficulties and gray matter heterotopia.

CEREBROFACIOARTICULAR SYNDROME Is also known as cerebrofacioarticular syndrome|van maldergem syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Hearing impairment
  • Scoliosis


SOURCES: OMIM ORPHANET MENDELIAN

More info about CEREBROFACIOARTICULAR SYNDROME

Van Maldergem syndrome is an autosomal recessive disorder characterized by intellectual disability, typical craniofacial features, auditory malformations resulting in hearing loss, and skeletal and limb malformations. Some patients have renal hypoplasia. Brain MRI typically shows periventricular nodular heterotopia (summary by Cappello et al., 2013).For a discussion of genetic heterogeneity of Van Maldergem syndrome, see {601390}.

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about VAN MALDERGEM SYNDROME 2; VMLDS2

45,X/46,XY mixed gonadal dysgenesis (45,X/46,XY MGD) is a disorder of sex development (DSD) associated with a numerical sex chromosome abnormality resulting from Y-chromosome mosaicism and leading to abnormal gonadal development.

45,X/46,XY MIXED GONADAL DYSGENESIS Is also known as 45,x0/46,xy mgd|45,x0/46,xy mixed gonadal dysgenesis|45,x/46,xy mgd

Related symptoms:

  • Short stature
  • Hearing impairment
  • Scoliosis
  • Nystagmus
  • Micrognathia


SOURCES: ORPHANET MENDELIAN

More info about 45,X/46,XY MIXED GONADAL DYSGENESIS

Desbuquois dysplasia (DBQD) is an autosomal recessive chondrodysplasia belonging to the multiple dislocation group and characterized by severe prenatal and postnatal growth retardation (stature less than -5 SD), joint laxity, short extremities, and progressive scoliosis. The main radiologic features are short long bones with metaphyseal splay, a 'Swedish key' appearance of the proximal femur (exaggerated trochanter), and advanced carpal and tarsal bone age with a delta phalanx (summary by Huber et al., 2009).Desbuquois dysplasia is clinically and radiographically heterogeneous, and had been classified into 2 types based on the presence (type 1) or absence (type 2) of characteristic hand anomalies, including an extra ossification center distal to the second metacarpal, delta phalanx, bifid distal thumb phalanx, and dislocation of the interphalangeal joints (Faivre et al., 2004). However, patients with and without these additional hand anomalies have been reported to have mutations in the same gene (see, e.g., CANT1); thus, these features are not distinctive criteria to predict the molecular basis of DBQD (Furuichi et al., 2011). In addition, Kim et al. (2010) described another milder variant of DBQD with almost normal outwardly appearing hands, but significant radiographic changes, including short metacarpals, elongated phalanges, and remarkably advanced carpal bone age. However, there is no accessory ossification center distal to the second metacarpal, and patients do not have thumb anomalies. Similar changes occur in the feet. These patients also tend to develop precocious osteoarthritis of the hand and spine with age. This phenotype is sometimes referred to as the 'Kim variant' of DBQD (Furuichi et al., 2011). Genetic Heterogeneity of Desbuquois DysplasiaDBQD2 (OMIM ) is caused by mutation in the XYLT1 gene (OMIM ) on chromosome 16p12.Two unrelated patients with immunodeficiency-23 (IMD23 ), due to mutation in the PGM3 gene (OMIM ), were reported to have skeletal features reminiscent of DBQD.

DESBUQUOIS DYSPLASIA 1; DBQD1 Is also known as desbuquois syndrome|micromelic dwarfism with vertebral and metaphyseal abnormalities and advanced carpotarsal ossification

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Scoliosis
  • Growth delay


SOURCES: OMIM MENDELIAN

More info about DESBUQUOIS DYSPLASIA 1; DBQD1

Top 5 symptoms//phenotypes associated to Epicanthus and Short metacarpal

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Scoliosis Common - Between 50% and 80% cases
Malar flattening Common - Between 50% and 80% cases
Depressed nasal bridge Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Midface retrusion Skeletal dysplasia Generalized hypotonia Short metatarsal Growth delay Brachydactyly Hypertelorism Cryptorchidism Hearing impairment Seizures Ptosis High palate Abnormality of the skeletal system Obesity Wide nasal bridge Micrognathia Short nose Clinodactyly Anteverted nares Hypospadias Hypoplasia of the maxilla Osteopenia Camptodactyly Short palpebral fissure Cutaneous finger syndactyly Tented upper lip vermilion Abnormal facial shape Short neck Autism Intrauterine growth retardation Delayed speech and language development Microtia Platyspondyly Short fourth metatarsal Strabismus Conductive hearing impairment Flat face Global developmental delay Spinal canal stenosis Talipes equinovarus Joint laxity Short 4th metacarpal Narrow chest

Rare Symptoms - Less than 30% cases

Round face Heterotopia Sensorineural hearing impairment Feeding difficulties Pectus excavatum Osteoarthritis Underdeveloped nasal alae Hypoplasia of the corpus callosum Blepharophimosis Neonatal hypotonia Large fontanelles Joint stiffness Hypothyroidism Dental malocclusion Telecanthus Renal hypoplasia Micropenis Broad thumb Congenital glaucoma Bifid scrotum Irregular dentition Wide cranial sutures Tracheomalacia Narrow forehead Short clavicles Abnormality of the hand Anteriorly placed anus Atresia of the external auditory canal Short 1st metacarpal Waddling gait Flat acetabular roof Abnormality of the kidney Sacral dimple Nail dysplasia Wide intermamillary distance Cubitus valgus Wide anterior fontanel Horseshoe kidney Short femoral neck Downturned corners of mouth Coxa vara Abnormality of the nail Microcephaly Motor delay Delayed skeletal maturation Severe short stature Hyperlordosis Autistic behavior Cone-shaped epiphysis Accelerated skeletal maturation Short foot Mandibular prognathia Depressed nasal ridge Micromelia Pachygyria Medial deviation of the foot Talipes Inability to walk Abnormality of the genital system Broad femoral neck Pterygium Coronal cleft vertebrae Generalized osteoporosis Hip subluxation Nystagmus Intellectual disability, mild Visual impairment Inguinal hernia Generalized joint laxity Abnormality of cardiovascular system morphology Irregular vertebral endplates Low-set, posteriorly rotated ears Protuberant abdomen Delayed puberty Tachycardia Webbed neck Cystic hygroma Agenesis of corpus callosum Absent speech Hernia Self-injurious behavior Phalangeal dislocation Multiple carpal ossification centers Partial duplication of the distal phalanx of the hallux Advanced tarsal ossification Bifid distal phalanx of the thumb Proximal fibular overgrowth Large joint dislocations Multiple joint dislocation Choanal atresia Cortical gyral simplification Supernumerary metacarpal bones Broad first metatarsal Advanced ossification of carpal bones Radioulnar dislocation Anal stenosis Thoracic hypoplasia Vertebral clefting Genu recurvatum Hypoplastic vertebral bodies Flattened epiphysis Open angle glaucoma Long upper lip Recurrent otitis media Ambiguous genitalia Kyphosis Ovotestis Abnormality of the scrotum Abnormal internal genitalia Cervix cancer Muscle hypertrophy of the lower extremities Ovarian serous cystadenoma Muscular hypotonia Myopia Macrocephaly Abdominal distention Respiratory distress Renal cyst Immunodeficiency Dyscalculia Dilatation Short distal phalanx of finger Osteoporosis Glaucoma Respiratory failure Narrow mouth Proptosis High forehead Kyphoscoliosis Pes planus Smooth philtrum Arthritis Penoscrotal hypospadias Streak ovary Coarctation of aorta Prolonged QT interval Low posterior hairline Postnatal growth retardation Gynecomastia Metaphyseal widening Genu varum Azoospermia Bicuspid aortic valve Bilateral cryptorchidism Disproportionate short-limb short stature Sandal gap Hallux valgus Microretrognathia Male infertility Ambiguous genitalia, female Joint dislocation Coxa valga Increased circulating gonadotropin level Gonadoblastoma Rhizomelia Bowing of the long bones Decreased serum testosterone level Ambiguous genitalia, male Chordee Urogenital sinus anomaly Unilateral cryptorchidism Epispadias Edema Aplasia/Hypoplasia of the middle phalanges of the hand Everted lower lip vermilion Spondyloepimetaphyseal dysplasia Failure to thrive Low-set ears Craniosynostosis Short palm Thick vermilion border Increased body weight Rocker bottom foot Overlapping toe Femoral bowing Slender long bone Thoracolumbar scoliosis Delayed epiphyseal ossification Beaking of vertebral bodies Small epiphyses Infra-orbital crease Narrow pelvis bone Proximal femoral epiphysiolysis Skull asymmetry Thoracic platyspondyly Distal femoral bowing Hypertension Clinodactyly of the 5th finger Diabetes mellitus Hyperactivity Small hand Asthma Eczema Short phalanx of finger Type I diabetes mellitus Frontal hirsutism Pseudohypoparathyroidism Mild short stature Epiphyseal stippling Peripheral neuropathy Hypogonadism Brachycephaly Delayed eruption of teeth Open mouth Abnormal form of the vertebral bodies Short toe Abnormality of the metacarpal bones Hypoplasia of the radius Melanocytic nevus Hypoplasia of the ulna Open bite Abnormality of immune system physiology Abnormality of the ulna Underdeveloped supraorbital ridges Menstrual irregularities Abnormality of female external genitalia Abnormality of the radius Frontal bossing Long philtrum Retrognathia Deeply set eye Severe global developmental delay Astigmatism Thin vermilion border Broad nasal tip Delayed myelination Laryngomalacia Delayed ability to walk Increased intracranial pressure Congenital hypothyroidism Anal atresia Distal symphalangism Short lower limbs Lower limb undergrowth Oval face Aplasia of the middle phalanx of the hand Broad metatarsal Broad metacarpals Proximal symphalangism Proximal symphalangism of hands Enlargement of the costochondral junction Absent distal phalanges Large iliac wings Abnormality of the distal phalanx of finger Absent distal interphalangeal creases Stapes ankylosis Short upper lip Intervertebral disc degeneration Cervical spinal canal stenosis Hypoplastic nasal septum Bulbous tips of toes Progressive conductive hearing impairment Large tarsal bones Chess-pawn distal phalanges Hypoplastic spinal processes Fusion of midphalangeal joints Abnormality of the proximal phalanges of the hand Abnormality of the proximal phalanx of the hallux Abnormality of the dentition Abnormality of the pinna Wide mouth Aplastic/hypoplastic toenail Short sternum Rhinitis Narrow face Cone-shaped epiphyses of the phalanges of the hand Blue irides Fair hair Red hair Chronic rhinitis Schizophrenia Bipolar affective disorder Pes cavus Thin upper lip vermilion Short philtrum Pectus carinatum Wide nose Single transverse palmar crease Abnormal vertebral morphology Abnormal dermatoglyphics Slender build Back pain Radial deviation of finger Short middle phalanx of finger 2-3 toe syndactyly Metatarsus adductus Anonychia Short finger Tarsal synostosis Dislocated radial head Short humerus Ankylosis Carpal synostosis Short hallux Thick upper lip vermilion Splayed fingers


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