Myopia, and Single transverse palmar crease

Diseases related with Myopia and Single transverse palmar crease

In the following list you will find some of the most common rare diseases related to Myopia and Single transverse palmar crease that can help you solving undiagnosed cases.


Top matches:

Medium match SHORT STATURE-OPTIC ATROPHY-PELGER-HUËT ANOMALY SYNDROME


Among the Yakuts, an Asian population isolate that is located in the northeastern part of Siberia, Maksimova et al. (2010) ascertained a short stature syndrome involving autosomal recessive postnatal growth failure, small hands and feet, loss of visual acuity with abnormalities of color vision, abnormal nuclear shape in neutrophil granulocytes (Pelger-Huet anomaly; see {169400}), and normal intelligence.

SHORT STATURE-OPTIC ATROPHY-PELGER-HUËT ANOMALY SYNDROME Is also known as soph syndrome

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Growth delay
  • Hypertelorism
  • Strabismus


SOURCES: OMIM ORPHANET MENDELIAN

More info about SHORT STATURE-OPTIC ATROPHY-PELGER-HUËT ANOMALY SYNDROME

Medium match GROWTH DELAY DUE TO INSULIN-LIKE GROWTH FACTOR TYPE 1 DEFICIENCY


Growth delay due to insulin-like growth factor I deficiency is characterised by the association of intrauterine and postnatal growth retardation with sensorineural deafness and intellectual deficit.

GROWTH DELAY DUE TO INSULIN-LIKE GROWTH FACTOR TYPE 1 DEFICIENCY Is also known as igf1 deficiency|primary insulin-like growth factor deficiency|growth retardation with sensorineural deafness and mental retardation|growth delay-deafness- intellectual disability syndrome|igf-1 deficiency

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about GROWTH DELAY DUE TO INSULIN-LIKE GROWTH FACTOR TYPE 1 DEFICIENCY

Medium match HYPERFERRITINEMIA WITH OR WITHOUT CATARACT; HRFTC


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

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Other less relevant matches:

Medium match RIN2 SYNDROME


RIN2 syndrome, formerly known as macrocephaly, alopecia, cutis laxa and scoliosis (MACS) syndrome, is a very rare inherited connective tissue disorder characterized by macrocephaly, sparse scalp hair, soft-redundant and hyperextensible skin, joint hypermobility, and scoliosis. Patients have progressive facial coarsening with downslanted palpebral fissures, upper eyelid fullness/infraorbital folds, thick/everted vermillion, gingival overgrowth and abnormal position of the teeth. Rarer manifestations such as abnormal high-pitched voice, bronchiectasis, hypergonadotropic hypergonadism and brachydactyly (see this term) have also been reported.

RIN2 SYNDROME Is also known as rin2 deficiency|tall forehead, sparse hair, skin hyperextensibility, and scoliosis|tall forehead-sparse hair-skin hyperextensibility-scoliosis syndrome|macrocephaly-alopecia-cutis laxa-scoliosis syndrome|macs syndrome|macrocephaly, alopecia, cutis laxa, a

Related symptoms:

  • Intellectual disability
  • Short stature
  • Scoliosis
  • Muscular hypotonia
  • Cryptorchidism


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about RIN2 SYNDROME

Medium match POTOCKI-SHAFFER SYNDROME


Potocki-Shaffer syndrome is characterized by multiple exostoses, parietal foramina, enlargement of the anterior fontanelle and occasionally intellectual deficit and mild cranio-facial anomalies. To date, 23 individuals from 14 families have been reported. The syndrome is caused by contiguous gene deletions on the short arm of chromosome 11 (11p11.2).

POTOCKI-SHAFFER SYNDROME Is also known as proximal 11p deletion syndrome|defect11 syndrome|pss|chromosome 11p11.2 deletion syndrome|11p11.2 deletion|p11pds

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Microcephaly


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about POTOCKI-SHAFFER SYNDROME

Medium match SYNDACTYLY-TELECANTHUS-ANOGENITAL AND RENAL MALFORMATIONS SYNDROME


This syndrome is characterised by the association of toe syndactyly, facial dysmorphism including telecanthus (abnormal distance between the eyes) and a broad nasal tip, urogenital malformations and anal atresia.

SYNDACTYLY-TELECANTHUS-ANOGENITAL AND RENAL MALFORMATIONS SYNDROME Is also known as star syndrome|syndactyly with renal and anogenital malformations

Related symptoms:

  • Seizures
  • Short stature
  • Hearing impairment
  • Abnormal facial shape
  • Low-set ears


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about SYNDACTYLY-TELECANTHUS-ANOGENITAL AND RENAL MALFORMATIONS SYNDROME

Medium match MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35; MRXS35


Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35; MRXS35

Medium match MICROPHTHALMIA WITH BRAIN AND DIGIT ANOMALIES


Microphthalmia with brain and digit anomalies is characterised by anophthalmia or microphthalmia, retinal dystrophy, and/or myopia, associated in some cases with cerebral anomalies. It has been described in two families. Polydactyly may also be present. Linkage analysis allowed identification of mutations in the BMP4 gene, which has already been shown to play a role in eye development.

MICROPHTHALMIA WITH BRAIN AND DIGIT ANOMALIES Is also known as microphthalmia and pituitary anomalies|microphthalmia with brain and digit developmental anomalies|syndromic microphthalmia type 6|anophthalmia, clinical, with micrognathia, malformed ears, digital anomalies, and abnormal external genitalia|bakrania-ragge

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Microcephaly


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about MICROPHTHALMIA WITH BRAIN AND DIGIT ANOMALIES

Medium match PITT-HOPKINS 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

Medium match CRANIOECTODERMAL DYSPLASIA


Cranioectodermal dysplasia (CED) is a rare developmental disorder characterized by congenital skeletal and ectodermal defects associated with dysmorphic features, nephronophthisis, hepatic fibrosis and ocular anomalies (mainly retinitis pigmentosa).

CRANIOECTODERMAL DYSPLASIA Is also known as levin syndrome i|sensenbrenner syndrome|ced

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Growth delay
  • Nystagmus


SOURCES: OMIM ORPHANET MENDELIAN

More info about CRANIOECTODERMAL DYSPLASIA

Top 5 symptoms//phenotypes associated to Myopia and Single transverse palmar crease

Symptoms // Phenotype % cases
Growth delay Common - Between 50% and 80% cases
Hearing impairment Common - Between 50% and 80% cases
Microcephaly Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Myopia and Single transverse palmar crease. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Brachydactyly

Uncommon Symptoms - Between 30% and 50% cases


Wide nasal bridge Clinodactyly of the 5th finger Generalized hypotonia Abnormal facial shape Cryptorchidism Short stature Seizures Muscular hypotonia Osteoporosis Syndactyly Strabismus Failure to thrive Micrognathia Epicanthus Protruding ear Intrauterine growth retardation High myopia Clinodactyly Postnatal growth retardation Abnormality of the skeletal system Sensorineural hearing impairment Micropenis Behavioral abnormality Joint laxity Hypothyroidism Nystagmus Retinal dystrophy Craniosynostosis Absent speech Hypertelorism Short neck Long philtrum Downslanted palpebral fissures Brachycephaly Cataract Scoliosis Anemia High palate Cutis laxa Toe syndactyly High forehead Telecanthus Hernia Narrow forehead

Rare Symptoms - Less than 30% cases


Thick vermilion border Everted lower lip vermilion Abnormality of the fingernails Retrognathia Sparse hair Redundant skin Pes planus Cupped ear Convex nasal ridge Autism Coarse facial features Finger syndactyly Renal insufficiency Autistic behavior Bicuspid aortic valve Aplasia/Hypoplasia of the corpus callosum Microretrognathia Tapered finger Dolichocephaly Gastroesophageal reflux Mandibular prognathia Gait ataxia Cerebellar hypoplasia Hypospadias Ataxia Anteverted nares Abnormal cardiac septum morphology Short philtrum Abnormality of the pinna Thin upper lip vermilion Severe global developmental delay Low-set ears Full cheeks Self-injurious behavior Cutaneous syndactyly Prominent nose Broad nasal tip Widely spaced teeth Prominent nasal bridge Anal atresia Thick lower lip vermilion Small hand Motor delay Delayed skeletal maturation Small for gestational age Blindness Facial asymmetry Ptosis Hypogonadism Radial deviation of finger Thick eyebrow Cleft palate Fine hair Abnormality of cardiovascular system morphology Macrotia Decreased body weight Photophobia Hypermetropia Pes cavus Upslanted palpebral fissure Pneumonia Ectodermal dysplasia Constipation Encephalopathy Thin nail Intellectual disability, severe Hypoplasia of the corpus callosum Interstitial pneumonitis Talipes equinovarus Fatigue Deeply set eye Abnormality of the abdominal wall Flattened epiphysis Wide mouth Abdominal distention Hypopigmentation of the skin Sleep disturbance Astigmatism Neurological speech impairment Abnormal toenail morphology Slow-growing hair Anxiety Apnea Sagittal craniosynostosis Hepatic cysts Abnormal diaphysis morphology Feeding difficulties Intellectual disability, moderate Aggressive behavior Depressed nasal bridge Orbital cyst Aplasia of the optic tract Chorioretinal coloboma Foot polydactyly Broad palm Short middle phalanx of finger Preaxial hand polydactyly Bifid scrotum Anophthalmia Proximal placement of thumb Broad distal phalanges of all fingers Renal magnesium wasting Plagiocephaly Severe muscular hypotonia Abnormal vertebral morphology Renal hypoplasia Nail dysplasia Bifid uvula Microcornea Incisional hernia Postaxial foot polydactyly Small sella turcica Anterior pituitary hypoplasia Flexion contracture of thumb Small scrotum Uplifted earlobe Wide intermamillary distance Inferior vermis hypoplasia Female hypogonadism Abnormality of the cervical spine Lambdoidal craniosynostosis Adrenal hypoplasia Anterior hypopituitarism Short nail Abnormality of the hypothalamus-pituitary axis Tubulointerstitial abnormality Delayed CNS myelination Broad toe Sclerocornea Microglossia Elevated serum creatinine Anodontia Specific learning disability Small cerebral cortex Omphalocele Hypoplasia of dental enamel Narrow foot Rhizomelia Hepatic fibrosis Short toe Failure of eruption of permanent teeth Square face Abnormality of the metaphysis Large beaked nose Short ribs Hypocalcemia Happy demeanor Abnormality of dental enamel Pes valgus Abnormal pattern of respiration Thickened helices Intermittent hyperventilation Broad fingertip Abnormality of the helix Joint hyperflexibility Hypodontia Nephropathy High, narrow palate Short distal phalanx of finger Limb undergrowth Hepatic failure Stage 5 chronic kidney disease Narrow chest Triangular nasal tip Respiratory failure Pectus excavatum Congestive heart failure Abnormality of the dentition Frontal bossing Hepatomegaly Overhanging nasal tip Hypotelorism Breathing dysregulation Clubbing of fingers Cyanosis Taurodontia High hypermetropia Short humerus Fibular hypoplasia Protuberant abdomen Sleep apnea Scaphocephaly Abnormal palate morphology Intellectual disability, progressive Short thorax Finger clinodactyly Abnormal autonomic nervous system physiology Tubulointerstitial nephritis Truncal ataxia Postnatal microcephaly Microdontia Aganglionic megacolon Open mouth Prominent occiput Mutism Chronic kidney disease Dysphasia Echolalia Misalignment of teeth Esophagitis Acrocyanosis Hiatus hernia Hyperventilation Hodgkin lymphoma Aphasia Hypopigmented skin patches Supernumerary nipple Overlapping toe Clubbing Short metatarsal Incoordination Abnormality of dental morphology Thoracic hypoplasia Coarse hair Postaxial polydactyly Macular dystrophy Iris coloboma Microcytic anemia Cognitive impairment Pulverulent cataract Nuclear cataract Ectopic anus Abnormality of the elbow Increased serum ferritin Iron deficiency anemia Non-midline cleft lip Dilatation Hypoplastic toenails Polycystic ovaries Bilateral single transverse palmar creases Hypoplasia of penis Webbed neck Congenital cataract Joint stiffness Macrocephaly Alopecia Visual impairment Hypergonadotropic hypogonadism Abnormality of the sternum Prolonged bleeding time High pitched voice Premature ovarian insufficiency Aortic aneurysm Increased susceptibility to fractures Hyperextensible skin Sparse and thin eyebrow Umbilical hernia Gingival overgrowth Bronchiectasis Sparse scalp hair Overgrowth Hirsutism Bruising susceptibility Joint hypermobility Ichthyosis Low-set, posteriorly rotated ears Congenital bilateral ptosis Abnormality of the vasculature Dyschromatopsia Abnormality of metabolism/homeostasis Intellectual disability, mild Nonprogressive visual loss Hyposegmentation of neutrophil nuclei Blue cone monochromacy Prominent glabella Achromatopsia Sandal gap Prominent forehead Progressive visual loss Thin vermilion border Long face Micromelia Proptosis Reduced visual acuity Optic atrophy Severe short stature Hyperactivity Small placenta Truncal obesity Prelingual sensorineural hearing impairment Neonatal hyperbilirubinemia Concave nasal ridge Short attention span Severe postnatal growth retardation Abnormality of the mouth Severe intrauterine growth retardation Congenital sensorineural hearing impairment Osteopenia Low anterior hairline Cafe-au-lait spot Insulin resistance Low posterior hairline Bilateral sensorineural hearing impairment Delayed eruption of teeth Attention deficit hyperactivity disorder Hypoglycemia Palpebral edema Generalized osteoporosis Coloboma Duane anomaly Inguinal hernia Recurrent infections Delayed speech and language development Mitral atresia 4-5 toe syndactyly Pelvic kidney Lop ear Peripheral pulmonary artery stenosis Narrow mouth Labial hypoplasia Bicornuate uterus Rectovaginal fistula Eyelid coloboma Pulmonary artery stenosis Narrow nose Syringomyelia Rod-cone dystrophy Polyhydramnios Ectopic kidney Ventriculomegaly Polydactyly Cerebral cortical atrophy Posteriorly rotated ears Agenesis of corpus callosum Midface retrusion Microphthalmia Malar flattening Central hypothyroidism Neonatal hypotonia Mild microcephaly Spondyloepiphyseal dysplasia Progressive microcephaly Dental crowding Decreased testicular size Febrile seizures Smooth philtrum Camptodactyly Anal stenosis Clitoral hypertrophy Eclabion Delayed puberty Aniridia Nephroblastoma Sparse eyebrow Wormian bones Abnormality of the genital system Underdeveloped nasal alae Downturned corners of mouth Broad forehead Exostoses Obesity Short nose Hypertension Infra-orbital fold Upper eyelid edema Abnormal lip morphology Irregular dentition Urethral stenosis Turricephaly Depressed nasal tip Hypoplasia of the radius Bulbous nose Aortic regurgitation Spina bifida occulta Horseshoe kidney Spina bifida Renal agenesis Vesicoureteral reflux Wide nose Talipes Decreased skull ossification Hydronephrosis Ventricular septal defect Cutaneous syndactyly between fingers 2 and 5 Multiple exostoses Parietal foramina Congenital ptosis Craniofacial dysostosis Sparse lateral eyebrow Malformation of the hepatic ductal plate



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Microphthalmia and Long philtrum, related diseases and genetic alterations

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