Strabismus, and Narrow chest

Diseases related with Strabismus and Narrow chest

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


Top matches:

Medium match MENTAL RETARDATION, X-LINKED 90; MRX90


Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, X-LINKED 90; MRX90

Medium match ANTLEY-BIXLER SYNDROME


Antley-Bixler syndrome is a very rare disorder characterised by craniosynostosis with midface hypoplasia, radiohumeral synostosis, femoral bowing and joint contractures.

Related symptoms:

  • Hypertelorism
  • Strabismus
  • Cleft palate
  • Downslanted palpebral fissures
  • Frontal bossing


SOURCES: ORPHANET MENDELIAN

More info about ANTLEY-BIXLER SYNDROME

Medium match ALAZAMI-YUAN SYNDROME; ALYUS


Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about ALAZAMI-YUAN SYNDROME; ALYUS

Mendelian

Too many results?
We can help you with your rare disease diagnosis.

Learn more

Other less relevant matches:

Medium 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

Medium match STIFF SKIN SYNDROME


Stiff skin syndrome is a rare, slowly progressive cutaneous disease characterized by rock-hard skin bound firmly to the underlying tissues (mainly on the shoulders, lower back, buttocks and thighs), mild hypertrichosis and hyperpigmentation overlying the affected areas of skin, as well as limited joint mobility (mainly of large joints) with flexion contractures. Cutaneous nodules, affecting mostly distal interphalangeal joints, as well as extracutaneous manifestations, including diffuse entrapment neuropathy, scoliosis, a tiptoe gait and a narrow thorax, may be associated. Restrictive pulmonary changes, muscle weakness, short stature and growth delay have also been reported. No vascular hyperreactivity, immunologic abnormalities nor visceral, muscular or bone involvement has been described.

Related symptoms:

  • Short stature
  • Scoliosis
  • Strabismus
  • Sensorineural hearing impairment
  • Muscle weakness


SOURCES: OMIM ORPHANET MENDELIAN

More info about STIFF SKIN SYNDROME

Low match CRANIOLENTICULOSUTURAL DYSPLASIA


Craniolenticulosutural dysplasia (CLSD), also known as Boyadjiev-Jabs syndrome, is characterized by the specific association of large and late-closing fontanels, hypertelorism, early-onset cataract and mild generalized skeletal dysplasia.

CRANIOLENTICULOSUTURAL DYSPLASIA Is also known as boyadjiev-jabs syndrome

Related symptoms:

  • Short stature
  • Scoliosis
  • Hypertelorism
  • Failure to thrive
  • Abnormal facial shape


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about CRANIOLENTICULOSUTURAL DYSPLASIA

Low match CHRISTIANSON SYNDROME


Christianson syndrome is a very rare form of syndromic intellectual deficit characterized by microcephaly, severe developmental delay or regression, hypotonia, abnormal movements, and early-onset seizures.

CHRISTIANSON SYNDROME Is also known as x-linked angelman-like syndrome|x-linked intellectual disability, south african type|mental retardation, microcephaly, epilepsy, and ataxia syndrome|x-linked intellectual disability-craniofacial dysmorphism-epilepsy-ophthalmoplegia-cerebellar atrophy synd

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about CHRISTIANSON SYNDROME

Low match INFANTILE-ONSET X-LINKED SPINAL MUSCULAR ATROPHY


X-linked distal arthrogryposis multiplex congenital (SMAX2) is a rare form of spinal muscular atrophy characterized by the neonatal onset of severe hypotonia, areflexia, profound weakness, multiple congenital contractures, facial dysmorphic features (myopathic face with open, tent-shaped mouth), cryptorchidism, and mild skeletal abnormalities (i.e. kyphosis, scoliosis), that is often preceded by polyhydramnios and reduced fetal movements in utero and followed by bone fractures shortly after birth. SMAX2 patients often have a limited life span, often succumbing to the disease within 2 years, as muscle weakness is progressive and chest muscle involvement eventually leads to ventilatory insufficiency and respiratory failure.

INFANTILE-ONSET X-LINKED SPINAL MUSCULAR ATROPHY Is also known as smax2|amc, distal, x-linked|arthrogryposis, x-linked, type i|spinal muscular atrophy, infantile x-linked|x-linked spinal muscular atrophy type 2|spinal muscular atrophy, x-linked lethal infantile|spinal muscular atrophy with arthrogryposis|x-linked distal

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Scoliosis
  • Micrognathia
  • Strabismus


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about INFANTILE-ONSET X-LINKED SPINAL MUSCULAR ATROPHY

Low match ELLIS VAN CREVELD SYNDROME


Ellis-van Creveld syndrome (EVC) is a skeletal and ectoderlam dysplasia characterized by a tetrad of short stature, postaxial polydactyly, ectodermal dysplasia, and congenital heart defects.

ELLIS VAN CREVELD SYNDROME Is also known as mesodermic dysplasia|mesoectodermal dysplasia|chondroectodermal dysplasia

Related symptoms:

  • Intellectual disability
  • Short stature
  • Growth delay
  • Failure to thrive
  • Strabismus


SOURCES: OMIM ORPHANET MENDELIAN

More info about ELLIS VAN CREVELD SYNDROME

Low match HYPERTRICHOTIC OSTEOCHONDRODYSPLASIA, CANTU TYPE


Cantu syndrome is a rare disorder characterized by congenital hypertrichosis, osteochondrodysplasia, cardiomegaly, and dysmorphism.

HYPERTRICHOTIC OSTEOCHONDRODYSPLASIA, CANTU TYPE Is also known as hypertrichotic osteochondrodysplasia

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about HYPERTRICHOTIC OSTEOCHONDRODYSPLASIA, CANTU TYPE

Top 5 symptoms//phenotypes associated to Strabismus and Narrow chest

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Generalized hypotonia Uncommon - Between 30% and 50% cases
Delayed speech and language development Uncommon - Between 30% and 50% cases
Long philtrum Uncommon - Between 30% and 50% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Other less frequent symptoms

Patients with Strabismus and Narrow chest. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Short stature Cryptorchidism Anteverted nares Macrotia Growth delay Seizures Wide nasal bridge Microcephaly Severe short stature Skeletal dysplasia Cleft palate Hypertelorism Scoliosis Thick eyebrow Flexion contracture High palate

Rare Symptoms - Less than 30% cases


Wide intermamillary distance Long eyelashes Low anterior hairline Broad hallux Curly eyelashes Poor speech Prominent nose Abnormality of pelvic girdle bone morphology Intrauterine growth retardation Deeply set eye Delayed eruption of teeth Micromelia Arthrogryposis multiplex congenita Skeletal muscle atrophy Decreased muscle mass Mild short stature Abnormality of the skeletal system Short distal phalanx of finger Hypertrichosis Delayed skeletal maturation Intellectual disability, mild Muscle weakness Hypertension Open mouth Prominent nasal bridge Abnormality of the fingernails Adducted thumb Intellectual disability, severe Thin vermilion border Joint hyperflexibility Frontal bossing Short nose Abnormality of cardiovascular system morphology Microdontia Narrow mouth Short neck Joint stiffness Thin upper lip vermilion Camptodactyly of finger Wide mouth Abnormal heart valve morphology Midface retrusion Hypospadias Osteopenia Abnormal facial shape Gastroesophageal reflux Prominent forehead Failure to thrive Prominent supraorbital ridges Macrocephaly Abnormality of the nail Short ribs Dextrocardia Abnormality of dental enamel Emphysema Cleft upper lip Hypodontia Genu valgum Postaxial polydactyly Nail dysplasia Ectodermal dysplasia Abnormality of the hair Hand polydactyly Hypoplastic toenails Situs inversus totalis Renal agenesis Renal hypoplasia/aplasia Dandy-Walker malformation Cubitus valgus Short long bone Postaxial hand polydactyly Heterotopia Limb undergrowth Myopathic facies Nail dystrophy Abnormality of metabolism/homeostasis Decreased fetal movement Hypoplasia of penis Dolichocephaly Facial palsy Micropenis Inguinal hernia Areflexia Hernia Kyphosis Bilateral single transverse palmar creases Myopathy Respiratory insufficiency Gait disturbance Cognitive impairment Ptosis Muscular hypotonia Micrognathia Loss of ability to walk in first decade Interphalangeal joint contracture of finger Severe muscular hypotonia Pectus carinatum Skin dimples Abnormality of the kidney Polydactyly Abnormal heart morphology Abnormality of the dentition Atrial septal defect Talipes equinovarus Ventricular septal defect Proximal spinal muscular atrophy Microphallus Respiratory insufficiency due to muscle weakness Degeneration of anterior horn cells Tongue fasciculations Thickened nuchal skin fold Multiple joint contractures Proximal placement of thumb Spinal muscular atrophy Congenital contracture Failure to thrive in infancy Hydroureter Abnormal hair quantity Hypoplastic left heart Generalized hirsutism Large for gestational age Metaphyseal widening Elevated alkaline phosphatase Pyloric stenosis Bicuspid aortic valve Accelerated skeletal maturation Coxa valga Lymphedema Pericardial effusion Gingival overgrowth Abnormality of the metaphysis Thick lower lip vermilion Low posterior hairline Ventricular hypertrophy Cardiomegaly Thick vermilion border Flared metaphysis Thin ribs Finger syndactyly Concentric hypertrophic cardiomyopathy Congenital hypertrophy of left ventricle Hypoplastic ischiopubic rami Broad first metatarsal Cuboid-shaped vertebral bodies Bilateral coxa valga Congenital, generalized hypertrichosis Erlenmeyer flask deformity of the femurs Large sella turcica Thickened calvaria Deep plantar creases Generalized hypertrichosis Esodeviation Broad hallux phalanx Broad ribs Thick upper lip vermilion Ovoid vertebral bodies Short hallux Platyspondyly Hypertrophic cardiomyopathy Thoracic hypoplasia Postaxial foot polydactyly Epispadias Conspicuously happy disposition Abnormality of female internal genitalia Thoracic dysplasia Hypoplastic iliac wing Acute leukemia Aplasia/Hypoplasia of the lungs Upper limb undergrowth Abnormal oral mucosa morphology Foot polydactyly Synostosis of carpal bones Abnormality of the ureter Natal tooth Disproportionate short stature Atrioventricular canal defect Agenesis of permanent teeth Short thorax Horizontal ribs Neonatal short-limb short stature Anxiety Depressed nasal bridge Umbilical hernia Coarse facial features Osteoporosis Patent ductus arteriosus Recurrent infections Cardiomyopathy Epicanthus Cone-shaped epiphyses of phalanges 2 to 5 Abnormality of bone marrow cell morphology Abnormality of the alveolar ridges Acetabular spurs Short iliac bones Congenital megaureter Capitate-hamate fusion Conical incisor Abnormal oral frenulum morphology Common atrium Photosensitive tonic-clonic seizures Sleep disturbance Inappropriate laughter Increased skull ossification Limitation of joint mobility Retinal detachment Paralysis Glaucoma Peripheral neuropathy Sensorineural hearing impairment Trapezoidal shaped vertebral bodies Subcutaneous nodule Brain very small Broad long bones Abnormality of the shoulder Miosis Abnormality of the clavicle Bell-shaped thorax Male pseudohermaphroditism Type II diabetes mellitus Thickened skin Chorioretinal coloboma Abnormality of lipid metabolism Pes planus Malar flattening Optic atrophy Cataract Entrapment neuropathy Stiff skin Lack of skin elasticity Impaired pain sensation Nephrolithiasis Abnormality of the musculature Scleroderma Aplasia/Hypoplasia of the skin Lipoatrophy Multiple lipomas Ectopia lentis Lipodystrophy Hypoplasia of the iris Short phalanx of finger Sparse hair Talipes Underdeveloped supraorbital ridges Femoral bowing Delayed cranial suture closure Choanal atresia Abnormality of the ribs Recurrent fractures Arachnodactyly Craniosynostosis Hypoplasia of the zygomatic bone Low-set, posteriorly rotated ears Proptosis Brachycephaly Downslanted palpebral fissures Enuresis Upslanted palpebral fissure Behavioral abnormality Turricephaly Abnormal renal morphology Cerebellar vermis hypoplasia Underdeveloped nasal alae Short metacarpal Coloboma Blepharophimosis Telecanthus Unilateral cryptorchidism Short columella Dental crowding Single transverse palmar crease Narrow pelvis bone Highly arched eyebrow Hirsutism Synophrys Neonatal hypotonia Hyperactivity Feeding difficulties Elbow ankylosis Joint laxity Carious teeth Happy demeanor Urinary incontinence Postnatal microcephaly Decreased body weight Involuntary movements Intellectual disability, profound Generalized-onset seizure Neuronal loss in central nervous system Epileptic encephalopathy Long face Clonus Unsteady gait Abnormality of eye movement Abnormality of the foot Ophthalmoplegia Severe global developmental delay Feeding difficulties in infancy Developmental regression Stereotypy Truncal ataxia Mandibular prognathia Aplasia/Hypoplasia of the cerebellum Abnormality of the nose Dyslexia Atrophy/Degeneration affecting the brainstem Slender finger Long nose Dysphasia Bowel incontinence Abnormality of the thorax Narrow face Cachexia Hyperkinesis Mutism Infantile muscular hypotonia Drooling Aplasia/Hypoplasia of the corpus callosum Intellectual disability, progressive Abnormality of the eye Autism Pulmonic stenosis Wide anterior fontanel Delayed closure of the anterior fontanelle Decreased skull ossification Capillary hemangioma Premature loss of teeth Brittle hair Coarse hair Hemangioma Hyperpigmentation of the skin Narrow iliac wings Large fontanelles Esotropia Bifid uvula Hypoplasia of the maxilla Wide nose Abnormality of skin pigmentation Smooth philtrum Hypoplasia of teeth High iliac wings Gait ataxia Dysphagia Cerebral cortical atrophy Encephalopathy Pectus excavatum Absent speech Dystonia Cerebellar atrophy Ventriculomegaly Hyperreflexia Sutural cataract Pain Nystagmus Ataxia Forehead hyperpigmentation Punctate cataract Posterior wedging of vertebral bodies Posterior Y-sutural cataract Widened posterior fossa



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Hyperreflexia and Bruising susceptibility, related diseases and genetic alterations Ptosis and Macrocephaly, related diseases and genetic alterations Pain and Ectodermal dysplasia, related diseases and genetic alterations Failure to thrive and Cholestasis, related diseases and genetic alterations Failure to thrive and Macrocephaly, related diseases and genetic alterations Anemia and Polyhydramnios, related diseases and genetic alterations

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more