Strabismus, and Short metacarpal

Diseases related with Strabismus and Short metacarpal

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


Top matches:

Low match NANCE-HORAN SYNDROME


Nance-Horan syndrome (NHS) is characterized by the association in male patients of congenital cataracts with microcornea, dental anomalies and facial dysmorphism.

NANCE-HORAN SYNDROME Is also known as cataract-dental syndrome|mesiodens-cataract syndrome|cataract, x-linked, with hutchinsonian teeth

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Nystagmus
  • Strabismus
  • Cataract


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about NANCE-HORAN SYNDROME

Low match CHONDRODYSPLASIA-DISORDER OF SEX DEVELOPMENT SYNDROME


Chondrodysplasia - disorder of sex development is an extremely rare disorder of sex development (see this term), reported in only two siblings (one terminated in pregnancy) to date, characterized by the clinical features of 46,XY complete gonadal dysgenesis (see this term; normal external female genitalia, lack of pubertal development, primary amenorrhea, and hypergonadotrophic hypogonadism) in association with severe dwarfism with generalized chondrodysplasia (bell-shaped thorax, micromelia, brachydactyly). Other reported features in the live sibling included eye anomalies (hypoplastic irides, myopia, coloboma of optic discs), dysmorphic features (deep-set eyes, upslanting palpebral fissures, puffy eyelids, large ears and mouth, mild prognathism), muscular hypoplasia, mild intellectual deficiency and severe microcephaly with cerebellar vermis hypoplasia. An autosomal recessive inheritance has been suggested.

CHONDRODYSPLASIA-DISORDER OF SEX DEVELOPMENT SYNDROME Is also known as nivelon-nivelon-mabille syndrome

Related symptoms:

  • Intellectual disability
  • Microcephaly
  • Growth delay
  • Strabismus
  • Intrauterine growth retardation


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about CHONDRODYSPLASIA-DISORDER OF SEX DEVELOPMENT SYNDROME

Low match IVIC SYNDROME


IVIC syndrome is a very rare genetic malformation syndrome characterized by upper limb anomalies (radial ray defects, carpal bone fusion), extraocular motor disturbances, and congenital bilateral non-progressive mixed hearing loss.

IVIC SYNDROME Is also known as oculo-oto-radial syndrome|oculootoradial syndrome|oors|radial ray defects, hearing impairment, external ophthalmoplegia, and thrombocytopenia

Related symptoms:

  • Hearing impairment
  • Scoliosis
  • Growth delay
  • Strabismus
  • Thrombocytopenia


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about IVIC SYNDROME

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Other less relevant matches:

Low match SPONDYLOMETAPHYSEAL DYSPLASIA-CONE-ROD DYSTROPHY SYNDROME


Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome is characterised by the association of spondylometaphyseal dysplasia (marked by platyspondyly, shortening of the tubular bones and progressive metaphyseal irregularity and cupping), with postnatal growth retardation and progressive visual impairment due to cone-rod dystrophy. So far, it has been described in eight individuals. Transmission appears to be autosomal recessive.

SPONDYLOMETAPHYSEAL DYSPLASIA-CONE-ROD DYSTROPHY SYNDROME Is also known as smd-crd

Related symptoms:

  • Short stature
  • Scoliosis
  • Growth delay
  • Nystagmus
  • Failure to thrive


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about SPONDYLOMETAPHYSEAL DYSPLASIA-CONE-ROD DYSTROPHY SYNDROME

Low match SHORT STATURE-BRACHYDACTYLY-OBESITY-GLOBAL DEVELOPMENTAL DELAY SYNDROME


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

Low match PROGRESSIVE SPONDYLOEPIMETAPHYSEAL DYSPLASIA-SHORT STATURE-SHORT FOURTH METATARSALS-INTELLECTUAL DISABILITY 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

Low match PELGER-HUET ANOMALY; PHA


Autosomal dominant anomaly characterized by abnormal ovoid shape GRANULOCYTE nuclei and their clumping chromatin. Mutations in the LAMIN B receptor gene that results in reduced protein levels are associated with the disorder. Heterozygote individuals are healthy with normal granulocyte function while homozygote individuals occasionally have skeletal anomalies, developmental delay, and seizures.

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hypertelorism
  • Failure to thrive
  • Strabismus


SOURCES: OMIM MESH MENDELIAN

More info about PELGER-HUET ANOMALY; PHA

Low match CROUZON SYNDROME-ACANTHOSIS NIGRICANS SYNDROME


Crouzon syndrome with acanthosis nigricans (CAN) is a very rare, clinically heterogeneous form of faciocraniostenosis with Crouzon-like features and premature synostosis of cranial sutures (Crouzon disease, see this term), associated with acanthosis nigricans (AN; see this term).

CROUZON SYNDROME-ACANTHOSIS NIGRICANS SYNDROME Is also known as crouzon-dermoskeletal syndrome|crouzonodermoskeletal syndrome

Related symptoms:

  • Short stature
  • Hypertelorism
  • Failure to thrive
  • Strabismus
  • Cleft palate


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about CROUZON SYNDROME-ACANTHOSIS NIGRICANS SYNDROME

Low match 15Q13.3 MICRODELETION SYNDROME


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

Low match HAND-FOOT-GENITAL SYNDROME


Hand-foot-genital syndrome (HFGS) is a very rare multiple congenital abnormality syndrome characterized by distal limb malformations and urogenital defects.

HAND-FOOT-GENITAL SYNDROME Is also known as hfgs|hand-foot-uterus syndrome|hfu

Related symptoms:

  • Strabismus
  • Brachydactyly
  • Ventricular septal defect
  • Renal insufficiency
  • Hypospadias


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about HAND-FOOT-GENITAL SYNDROME

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

Symptoms // Phenotype % cases
Intellectual disability Uncommon - Between 30% and 50% cases
Severe short stature Uncommon - Between 30% and 50% cases
Short stature Uncommon - Between 30% and 50% cases
Failure to thrive Uncommon - Between 30% and 50% cases
Brachydactyly Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Growth delay Ptosis Visual impairment Hypertelorism Microcephaly Malar flattening Frontal bossing Scoliosis Depressed nasal bridge Global developmental delay

Rare Symptoms - Less than 30% cases


Craniosynostosis Ventricular septal defect Renal insufficiency Small thenar eminence Limited elbow movement Short 1st metacarpal Thrombocytopenia Synostosis of carpal bones Abnormal dermatoglyphics Short thumb Joint stiffness Coloboma Deeply set eye Abnormal facial shape Astigmatism Hyperlordosis Platyspondyly Skeletal dysplasia Short palm Microtia Dental malocclusion Coxa vara Femoral bowing Beaking of vertebral bodies Seizures Generalized hypotonia Epicanthus Short neck Short foot Laryngomalacia Recurrent otitis media Delayed speech and language development Intrauterine growth retardation Visual loss Autism Abnormality of the dentition Nystagmus Autistic behavior Short phalanx of finger Microphthalmia Macrotia Short 5th metacarpal Abnormality of chromosome segregation Short 4th metacarpal Lower limb hyperreflexia Upper limb undergrowth Acute lymphoblastic leukemia Lower limb hypertonia Mild short stature Foot dorsiflexor weakness Gingival overgrowth Ectopic calcification Folate deficiency Giant platelets Median cleft palate Neutropenia Hyposegmentation of neutrophil nuclei Short 3rd metacarpal Cleft palate Feeding difficulties Optic atrophy Downslanted palpebral fissures Respiratory insufficiency Hydrocephalus Midface retrusion Posteriorly rotated ears Brachycephaly Eczema Polydactyly Generalized tonic-clonic seizures Small epiphyses Osteopenia Blindness Cognitive impairment Thick vermilion border Increased body weight Tented upper lip vermilion Rocker bottom foot Overlapping toe Short femoral neck Slender long bone Thoracolumbar scoliosis Delayed epiphyseal ossification Spondyloepimetaphyseal dysplasia Narrow pelvis bone Leukemia Short fourth metatarsal Proximal femoral epiphysiolysis Skull asymmetry Thoracic platyspondyly Distal femoral bowing Macrocephaly Cataract Edema Kyphosis Pes cavus Prominent forehead High forehead Umbilical hernia Proptosis Dry skin Conductive hearing impairment Bicornuate uterus Urinary incontinence Postaxial hand polydactyly Recurrent urinary tract infections Spontaneous abortion Finger clinodactyly Sacral dimple Abnormality of the outer ear Abnormality of the urinary system Abnormality of the hand Proximal placement of thumb Bifid scrotum Short 5th finger Short hallux Abnormality of the uterus Delayed ossification of carpal bones Short distal phalanx of finger Ureteropelvic junction obstruction Chordee Pyelonephritis Uterus didelphys Abnormality of the urethra Pseudoepiphyses Hallux varus Shortening of all middle phalanges of the fingers Ulnar deviation of the 2nd finger Short first metatarsal Short 2nd toe Penile hypospadias Hypoplastic fifth toenail Delayed tarsal ossification Vesicoureteral reflux Micropenis Short nose Melanocytic nevus Hypopigmentation of the skin Hypoplasia of the maxilla Nevus Migraine Convex nasal ridge Epidermal acanthosis Choanal atresia Abnormal form of the vertebral bodies Acanthosis nigricans Abnormal palate morphology Arnold-Chiari malformation Abnormality of the metacarpal bones Increased intracranial pressure Glomerulonephritis Aplasia/Hypoplasia of the cerebellum Clinodactyly of the 5th finger Bicoronal synostosis Clinodactyly Hypospadias Bipolar affective disorder Schizophrenia Short uvula Membranous nephropathy Brachyturricephaly Proportionate short stature Abnormal sacrum morphology Craniofacial dysostosis Inflammatory abnormality of the eye Cloverleaf skull Choanal stenosis Turricephaly Delayed skeletal maturation Frontal hirsutism Motor delay Limited interphalangeal movement Leukocytosis Right bundle branch block Bundle branch block Absent thumb Diastema Carpal synostosis Anodontia Rectovaginal fistula Carpal bone hypoplasia Pendular nystagmus Aplastic clavicle Severe vision loss Limited wrist movement Pectoralis major hypoplasia Triphalangeal thumb Hypoplasia of deltoid muscle Increased number of teeth Narrow nasal bridge Blurred vision Hypophosphatemia Myopia Photophobia Widely spaced teeth Postnatal growth retardation Nyctalopia Narrow face Prominent nose Retinal dystrophy Microcornea Preaxial hand polydactyly Radioulnar synostosis Progressive visual loss Abnormality of the shoulder Telecanthus Blepharophimosis Supernumerary maxillary incisor Narrow chest Micromelia Cerebellar vermis hypoplasia Abnormality of pelvic girdle bone morphology Chorioretinal coloboma Hypoplasia of the iris Male pseudohermaphroditism Bell-shaped thorax Abnormality of the clavicle Miosis Broad long bones Hypoplasia of the radius Brain very small Trapezoidal shaped vertebral bodies Increased skull ossification Hearing impairment Posterior Y-sutural cataract Mesiodens Arrhythmia Sutural cataract Anal atresia Intestinal malrotation Ectodermal dysplasia Multiple impacted teeth External ophthalmoplegia Broad finger Waddling gait Limb undergrowth Low-set ears Long philtrum Cupped ribs Large central visual field defect Tibial torsion Hypoplastic inferior ilia Protruding ear Cryptorchidism High palate Intellectual disability, moderate Mandibular prognathia Wide nasal bridge Abnormality of the skeletal system Anteverted nares Reduced visual acuity Glaucoma Retinal thinning Obesity Retrognathia Severe global developmental delay Thin vermilion border Broad nasal tip Delayed myelination Short palpebral fissure Short metatarsal Delayed ability to walk Underdeveloped supraorbital ridges Pseudohypoparathyroidism Infra-orbital crease Screwdriver-shaped incisors Behavioral abnormality Severe platyspondyly Narrow greater sacrosciatic notches Abnormality of the ribs High hypermetropia Retinal detachment Bowing of the long bones Rhizomelia Long face Cone/cone-rod dystrophy Metaphyseal widening Metaphyseal irregularity Bowing of the legs Flared metaphysis Abnormality of color vision Congenital cataract Tibial bowing Short finger Disproportionate short stature Decreased hip abduction Macular atrophy Thoracic scoliosis Iris hypopigmentation Peripheral visual field loss Retinal atrophy Prominent nasal bridge Ovoid vertebral bodies Ectopia pupillae Optic nerve coloboma Enlarged joints Spondylometaphyseal dysplasia Metaphyseal cupping Cone dysfunction syndrome Abnormality of macular pigmentation Longitudinal vaginal septum



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Ventricular septal defect and Abnormality of movement, related diseases and genetic alterations Lymphoma and Dandy-Walker malformation, related diseases and genetic alterations Hydrocephalus and Respiratory tract infection, related diseases and genetic alterations Immunodeficiency and Otitis media, related diseases and genetic alterations Cleft palate and Midface retrusion, related diseases and genetic alterations Nystagmus and Corneal dystrophy, related diseases and genetic alterations Obesity and Single transverse palmar crease, related diseases and genetic alterations

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