Myopia, and Convex nasal ridge

Diseases related with Myopia and Convex nasal ridge

In the following list you will find some of the most common rare diseases related to Myopia and Convex nasal ridge that can help you solving undiagnosed cases.

Top matches:

Rubinstein-Taybi syndrome (RSTS) is a multiple congenital anomaly syndrome characterized by mental retardation, postnatal growth deficiency, microcephaly, broad thumbs and halluces, and dysmorphic facial features. The classic facial appearance is striking, with highly arched eyebrows, long eyelashes, downslanting palpebral fissures, broad nasal bridge, beaked nose with the nasal septum, highly arched palate, mild micrognathia, and characteristic grimacing or abnormal smile (Rubinstein and Taybi, 1963; review by Hennekam, 2006).About 50 to 70% of patients have RSTS1 due to mutation in the CREBBP gene (OMIM ). RSTS2 is much less common, and about 3% of patients have mutations in the EP300 gene. RSTS2 appears to be associated with a milder phenotype than RSTS1. Patients with RSTS2 have less severe facial dysmorphism and better cognitive function, but may have more severe microcephaly and malformation of facial bone structures compared to those with RSTS1 (Bartsch et al., 2010).For a discussion of genetic heterogeneity of Rubinstein-Taybi syndrome, see RSTS1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Microcephaly
  • Scoliosis


SOURCES: ORPHANET OMIM MENDELIAN

More info about RUBINSTEIN-TAYBI SYNDROME DUE TO EP300 HAPLOINSUFFICIENCY

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

RUBINSTEIN-TAYBI SYNDROME DUE TO 16P13.3 MICRODELETION Is also known as rubinstein-taybi deletion syndrome|rsts deletion syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about RUBINSTEIN-TAYBI SYNDROME DUE TO 16P13.3 MICRODELETION

Other less relevant matches:

High match TEMTAMY SYNDROME

Temtamy syndrome is a very rare congenital genetic neurological disorder characterized by agenesis/hypoplasia of corpus callosum with developmental abnormalities, ocular disorders, and variable craniofacial and skeletal abnormalities.

TEMTAMY SYNDROME Is also known as temtamy-shalash syndrome|craniofacial dysmorphism-coloboma-corpus callosum agenesis syndrome|mental retardation with or without craniofacial dysmorphism, ocular coloboma, or abnormal corpus callosum

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about TEMTAMY SYNDROME

Pitt-Hopkins syndrome (PHS) is characterized by the association of intellectual deficit, characteristic facial dysmorphism and problems of abnormal and irregular breathing.

PITT-HOPKINS SYNDROME Is also known as encephalopathy, severe epileptic, with autonomic dysfunction|mental retardation, syndromal, with intermittent hyperventilation

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about PITT-HOPKINS SYNDROME

Bohring-Opitz syndrome is characterised by intrauterine growth retardation (IUGR), failure to thrive, facial dysmorphism (prominent metopic suture and forehead nevus flammeus, a low frontal and temporal hairline with hirsutism, puffy cheeks, upslanting palpebral fissures, exophthalmos, hypertelorism, cleft lip and palate, retrognathia and low set ears), flexion deformities of the elbows and wrists, camptodactyly, ulnar deviation of the fingers, foot anomalies and severe developmental delay. Less than 20 patients have been described so far. Although the large majority of reported cases occurred sporadically, autosomal recessive inheritance has also been reported.

BOHRING-OPITZ SYNDROME Is also known as c-like syndrome|bos syndrome|bohring syndrome|oberklaid-danks syndrome|opitz trigonocephaly-like syndrome

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about BOHRING-OPITZ SYNDROME

Cartilage-hair hypoplasia is a disease affecting the bone metaphyses causing small stature from birth.

CARTILAGE-HAIR HYPOPLASIA Is also known as autosomal recessive metaphyseal chondrodysplasia|metaphyseal chondrodysplasia, mckusick type

Related symptoms:

  • Intellectual disability
  • Short stature
  • Scoliosis
  • Growth delay
  • Neoplasm


SOURCES: OMIM ORPHANET MENDELIAN

More info about CARTILAGE-HAIR HYPOPLASIA

Cohen syndrome is an autosomal recessive multisystem disorder characterized by many clinical features, including facial dysmorphism, microcephaly, truncal obesity, intellectual disability, progressive retinopathy, and intermittent congenital neutropenia (summary by Duplomb et al., 2014).

COHEN SYNDROME; COH1 Is also known as chs1, formerly|pepper syndrome|coh|hypotonia, obesity, and prominent incisors

Related symptoms:

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


SOURCES: OMIM MESH MENDELIAN

More info about COHEN SYNDROME; COH1

Phosphoribosylpyrophosphate synthetase I superactivity is an X-linked inborn error of metabolism in which increased enzyme activity is associated with hyperuricemia and gout. Some affected individuals have neurodevelopmental abnormalities, particularly sensorineural deafness (Becker et al., 1988; Roessler et al., 1993).Although different kinetic defects affecting the PRPS1 enzyme have been identified in this disorder, the common pathway involves increased synthesis of phosphoribosylpyrophosphate (PRPP), which leads to increased uric acid and purine production (Becker, 2001).

PHOSPHORIBOSYLPYROPHOSPHATE SYNTHETASE SUPERACTIVITY Is also known as prps1 superactivity

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about PHOSPHORIBOSYLPYROPHOSPHATE SYNTHETASE SUPERACTIVITY

Sanjad-Sakati syndrome (SSS), also known as hypoparathyroidism - intellectual disability-dysmorphism, is a rare multiple congenital anomaly syndrome, mainly occurring in the Middle East and the Arabian Gulf countries, characterized by intrauterine growth restriction at birth, microcephaly, congenital hypoparathyroidism (that can cause hypocalcemic tetany or seizures in infancy), severe growth retardation, typical facial features (long narrow face, deep-set eyes, beaked nose, floppy and large ears, long philtrum, thin lips and micrognathia), and mild to moderate intellectual deficiency. Ocular findings (i.e. nanophthalmos, retinal vascular tortuosity and corneal opacification/clouding) and superior mesenteric artery syndrome have also been reported. Although SSS shares the same locus with the autosomal recessive form of Kenny-Caffey syndrome (see this term), the latter differs from SSS by its normal intelligence and skeletal features.

SANJAD-SAKATI SYNDROME Is also known as richardson-kirk syndrome|hrd syndrome|sanjad-sakati syndrome|hypoparathyroidism-intellectual disability-dysmorphism syndrome|hypoparathyroidism, congenital, associated with dysmorphism, growth retardation, and developmental delay|sss|hypoparathyroidism wi

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about SANJAD-SAKATI SYNDROME

Top 5 symptoms//phenotypes associated to Myopia and Convex nasal ridge

Symptoms // Phenotype % cases
Intellectual disability Very Common - Between 80% and 100% cases
Short stature Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Strabismus Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Myopia and Convex nasal ridge. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases

Micrognathia

Uncommon Symptoms - Between 30% and 50% cases

Failure to thrive

Common Symptoms - More than 50% cases

Growth delay

Uncommon Symptoms - Between 30% and 50% cases

Microcephaly

Common Symptoms - More than 50% cases

Abnormal facial shape

Uncommon Symptoms - Between 30% and 50% cases

Muscular hypotonia

Common Symptoms - More than 50% cases

Hearing impairment

Uncommon Symptoms - Between 30% and 50% cases

Scoliosis

Common Symptoms - More than 50% cases

Seizures

Uncommon Symptoms - Between 30% and 50% cases

Cryptorchidism Hypertelorism Downslanted palpebral fissures Recurrent infections Depressed nasal bridge Intrauterine growth retardation Wide nasal bridge Prominent nose Small hand Severe global developmental delay Clinodactyly of the 5th finger Short neck Visual impairment Abnormality of the skeletal system Hypoplasia of the corpus callosum Dilatation Prominent forehead Postnatal growth retardation High palate Microphthalmia Low-set, posteriorly rotated ears Retrognathia Low-set ears Macrotia Gastroesophageal reflux Long philtrum Tapered finger Highly arched eyebrow Intellectual disability, severe High myopia Optic atrophy Ventriculomegaly Talipes equinovarus Wide mouth Pneumonia Cataract Pes planus Overlapping toe Joint hyperflexibility Abnormal palate morphology Narrow forehead Cardiomyopathy Sensorineural hearing impairment Astigmatism Neurological speech impairment Motor delay Intellectual disability, moderate Delayed skeletal maturation Autism Ventricular septal defect

Rare Symptoms - Less than 30% cases

Arthritis Prominent nasal bridge Short philtrum Thick eyebrow Thick vermilion border Lumbar hyperlordosis Small for gestational age Anteverted nares Thick lower lip vermilion Short toe Aplasia/Hypoplasia of the corpus callosum Genu varum Ataxia Feeding difficulties Constipation Protruding ear Upslanted palpebral fissure Micropenis Mandibular prognathia Deeply set eye Growth hormone deficiency Apnea Thin upper lip vermilion Aganglionic megacolon Single transverse palmar crease Abnormality of retinal pigmentation Low anterior hairline Cellular immunodeficiency Sacral dimple Aplasia/Hypoplasia affecting the eye Abnormality of the hip bone Severe intrauterine growth retardation Hypocalcemia Gingival overgrowth Abnormality of the pancreas Diabetes mellitus Thick hair Hypertension Epicanthus Thrombocytopenia Severe short stature Joint laxity Joint hypermobility Short palm Short foot High, narrow palate Hypopigmentation of the skin Hodgkin lymphoma Full cheeks Wide intermamillary distance Open mouth Neutropenia Intellectual disability, progressive Sleep apnea Short metatarsal Supernumerary nipple Hiatus hernia Synophrys Misalignment of teeth Neoplasm Hepatomegaly Hernia Posteriorly rotated ears Progressive visual loss Muscular hypotonia of the trunk Retinopathy Narrow chest Intellectual disability, profound Short thorax Agenesis of corpus callosum Facial hemangioma Broad thumb Corneal opacity Intellectual disability, mild Genu valgum Anemia Long eyelashes Narrow palate Coarse facial features Gait ataxia Renal agenesis Syndactyly Broad hallux Absent speech Nystagmus Autistic behavior Atrial septal defect Frontal bossing Macrocephaly Ptosis Cleft palate Abnormality of cardiovascular system morphology Low hanging columella Hypoplasia of penis Obesity Long face Intestinal malrotation Cognitive impairment Hirsutism Pes valgus Iris coloboma Abnormality of the kidney Feeding difficulties in infancy Sleep disturbance Microcornea Abnormality of humoral immunity Visual loss Absent pubertal growth spurt Cerebellar hypoplasia Flaring of lower rib cage Pectus excavatum Blindness Susceptibility to chickenpox Pulmonary lymphoma Respiratory distress Malar flattening Kyphosis Edema Behavioral abnormality Esotropia Rod-cone dystrophy Smooth philtrum Pigmentary retinopathy Otitis media Aciduria Short metacarpal Hypoplasia of the maxilla Retinal detachment Retinal dystrophy Abnormality of skin pigmentation Retinal degeneration Arachnodactyly Delayed puberty Reduced visual acuity Finger syndactyly Delayed speech and language development Stroke Nyctalopia Paralysis Respiratory tract infection Neonatal hypotonia Severe T-cell immunodeficiency Kyphoscoliosis Hypothyroidism Biconvex vertebral bodies Hypoplastic anemia Sparse facial hair Distal arthrogryposis B-cell lymphoma Generalized joint laxity Tracheal stenosis Fair hair Heart block Upper limb undergrowth Overweight Thrombocytosis Exocrine pancreatic insufficiency Esophageal atresia Aplasia/Hypoplasia of the abdominal wall musculature Hypoplasia of the odontoid process Anal stenosis Macrocytic anemia Metaphyseal dysplasia High hypermetropia Tibial bowing Basal cell carcinoma Limited elbow extension Femoral bowing Aplastic anemia Metaphyseal chondrodysplasia Impaired lymphocyte transformation with phytohemagglutinin Neonatal short-limb short stature Metaphyseal dysostosis Non-Hodgkin lymphoma Long fibula Narrow vertebral interpedicular distance Abnormality of the distal phalanx of finger Abnormal T cell morphology Decreased fetal movement Abnormally ossified vertebrae Abnormal bone ossification Congenital hypoplastic anemia Carious teeth Spinal dysraphism Large face Hypersplenism Normocytic anemia Mucopolysacchariduria Abnormal diaphysis morphology Diaphyseal thickening Bronchiolitis Abnormality of chromosome stability Metaphyseal cupping Mitral valve prolapse Laryngomalacia Clumsiness Hyperactivity Arnold-Chiari type I malformation Hyperuricemia Hypotelorism Triangular face Polyneuropathy Peripheral axonal neuropathy Dysmetria Abnormality of eye movement Hypermetropia Abnormality of the nervous system Areflexia High-frequency hearing impairment Arrhythmia Renal insufficiency Hypertonia Peripheral neuropathy Slender toe Cat cry Hypoplastic philtrum Childhood-onset truncal obesity Macrodontia of permanent maxillary central incisor Prominent eyelashes Gout Abnormal aortic morphology High-pitched cry Recurrent bacterial infections Congenital hypoparathyroidism Hypocalcemic seizures Tetany Decreased circulating cortisol level Hyperphosphatemia Hypoparathyroidism External ear malformation Spinal canal stenosis Intestinal obstruction Abnormality of dental enamel Delayed myelination Hyperuricosuria Bifid uvula Thin vermilion border High forehead Hypogonadism Recurrent respiratory infections Abnormality of the dentition Myopathy Uric acid nephrolithiasis Abnormality of skeletal muscles Excessive purine production Increased urinary hypoxanthine Thick corpus callosum Chorioretinal dysplasia Tall stature Failure to thrive in infancy Weak cry Celiac disease Narrow nasal bridge Truncal obesity Disproportionate tall stature Cerebral hemorrhage Abnormality of dental morphology Constriction of peripheral visual field Cubitus valgus Rheumatoid arthritis Intracranial hemorrhage Thoracic scoliosis Radioulnar synostosis Precocious puberty Reduced number of teeth Squamous cell carcinoma Recurrent skin infections Venous thrombosis Leukopenia Sandal gap Preauricular skin tag Progressive microcephaly Exotropia Subcapsular cataract Peripheral visual field loss Narrow philtrum Iris atrophy Narrow palm Hemeralopia Cutis gyrata of scalp Chorioretinal dystrophy Laryngeal stenosis Hyperplasia of the maxilla Congenital neutropenia Granulocytopenia Bull's eye maculopathy Macrodontia Tapetoretinal degeneration Posterior subcapsular cataract Recurrent aphthous stomatitis Aplasia/Hypoplasia of the earlobes Abnormality of the larynx Bone spicule pigmentation of the retina Macular edema Furrowed tongue Deep venous thrombosis Facial hypotonia Vocal cord paralysis Microglossia Gingivitis Mesomelia Rhizomelia Cone-shaped epiphysis Dysphasia Abnormality of the helix Clubbing of fingers Echolalia Iron deficiency anemia Esophagitis Acrocyanosis Increased serum ferritin Hyperventilation Abnormality of the elbow Aphasia Thickened helices Ectopic anus Cupped ear Clubbing Self-injurious behavior Nuclear cataract Incoordination Coarse hair Hypopigmented skin patches Mutism Pulverulent cataract Breathing dysregulation Abnormal pattern of respiration Finger clinodactyly Non-midline cleft lip Camptodactyly Cleft lip Bilateral single transverse palmar creases Polyhydramnios Proptosis Cerebral cortical atrophy Abnormality of the fingernails Polycystic ovaries Inguinal hernia Hypoplastic toenails Flexion contracture Happy demeanor Microcytic anemia Overhanging nasal tip Triangular nasal tip Broad fingertip Intermittent hyperventilation Narrow foot Failure of eruption of permanent teeth Small cerebral cortex Square face Large beaked nose Widely spaced teeth Abnormal autonomic nervous system physiology Platyspondyly Congenital nystagmus Short 2nd toe Scleral staphyloma Lop ear Lens luxation Short upper lip Colpocephaly Profound global developmental delay Hypoplasia of teeth Neurogenic bladder Bowing of the legs Coloboma Unilateral renal agenesis Chorioretinal coloboma Aortic aneurysm Relative macrocephaly Hip dislocation Dolichocephaly Facial asymmetry Aortic regurgitation Short chin Dental crowding Posterior staphyloma Mental deterioration Truncal ataxia Brachydactyly Postnatal microcephaly Cyanosis Specific learning disability Hypoplastic left heart Abdominal distention Polysplenia Facial hypertrichosis Nevus sebaceous Abnormality of the hairline Spasticity Abnormality of the pinna Fatigue Congestive heart failure Aggressive behavior Anxiety Patent ductus arteriosus Abnormal heart morphology Pes cavus Hydronephrosis Clinodactyly Encephalopathy Telecanthus Camptodactyly of finger Webbed neck Metaphyseal widening Hyperlordosis Delayed gross motor development Micromelia Malabsorption Hypotrichosis Arthrogryposis multiplex congenita Leukemia Pectus carinatum Abnormal cardiac septum morphology Sparse hair Carcinoma Lymphoma EEG abnormality Skeletal dysplasia Brachycephaly Long nose Alopecia Immunodeficiency Splenomegaly Diarrhea Preeclampsia Respiratory insufficiency Postural instability Gastrointestinal hemorrhage Delayed peripheral myelination Sparse and thin eyebrow Portal hypertension Abnormality of pelvic girdle bone morphology Disproportionate short-limb short stature Reduced tendon reflexes Neoplasm of the skin Accelerated skeletal maturation Sparse eyelashes Premature birth Short ribs Lymphopenia Dental malocclusion Decreased antibody level in blood Bilateral sensorineural hearing impairment Abnormality of epiphysis morphology Bronchiectasis Bowing of the long bones Abnormal form of the vertebral bodies Abnormality of the metaphysis Depressed nasal ridge Fine hair Blue sclerae Abnormality of the ribs Overbite Hyperechogenic pancreas Anal atresia Interphalangeal joint contracture of finger CNS hypomyelination Hemangioma Joint dislocation Elbow flexion contracture Photophobia Bradycardia Decreased body weight Heterotopia Hypertrichosis Congenital diaphragmatic hernia Elbow dislocation Dandy-Walker malformation Limitation of joint mobility Vesicoureteral reflux Nevus Joint stiffness Everted lower lip vermilion Congenital cataract Oral cleft Cleft upper lip Talipes Trigonocephaly Nephroblastoma Facial capillary hemangioma Posterior helix pit Nevus flammeus of the forehead Mesomelic/rhizomelic limb shortening Ulnar deviation of the wrist Accessory oral frenulum Atrophy of the spinal cord Deep plantar creases Broad alveolar ridges Abnormal anterior chamber morphology Mild myopia Deep palmar crease Abnormality of the optic nerve Hypoplasia of the brainstem Capillary hemangioma Thoracolumbar scoliosis Severe failure to thrive Nevus flammeus Underdeveloped supraorbital ridges Prominent metopic ridge Ulnar deviation of finger Dislocated radial head Biparietal narrowing Broad palm Patchy osteosclerosis


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Feeding difficulties and Low-set, posteriorly rotated ears, related diseases and genetic alterations