Downslanted palpebral fissures, and Diabetes mellitus

Diseases related with Downslanted palpebral fissures and Diabetes mellitus

In the following list you will find some of the most common rare diseases related to Downslanted palpebral fissures and Diabetes mellitus that can help you solving undiagnosed cases.


Top matches:

Medium match LAMB-SHAFFER SYNDROME; LAMSHF


Lamb-Shaffer syndrome is a neurodevelopmental disorder characterized by global developmental delay, intellectual disability, poor expressive speech, and mild dysmorphic facial features. Additional variable skeletal abnormalities may also be present (summary by Nesbitt et al., 2015).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about LAMB-SHAFFER SYNDROME; LAMSHF

Medium match MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM 2; MSSGM2


Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Hearing impairment
  • Microcephaly


SOURCES: OMIM MENDELIAN

More info about MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM 2; MSSGM2

Medium match 17Q12 MICRODELETION SYNDROME


17q12 microdeletion syndrome is a rare chromosomal anomaly syndrome resulting from the partial deletion of the long arm of chromosome 17 characterized by renal cystic disease, maturity onset diabetes of the young type 5, and neurodevelopmental disorders, such as cognitive impairment, developmental delay (particularly of speech), autistic traits and autism spectrum disorder. Müllerian aplasia in females, macrocephaly, mild facial dysmorphism (high forehead, deep set eyes and chubby cheeks) and transient hypercalcaemia have also been reported.

17Q12 MICRODELETION SYNDROME Is also known as del(17)(q12)|monosomy 17q12

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about 17Q12 MICRODELETION SYNDROME

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Other less relevant matches:

Medium match WOODHOUSE-SAKATI SYNDROME


Woodhouse-Sakati syndrome is a multisystemic disorder characterized by hypogonadism, alopecia, diabetes mellitus, intellectual deficit and extrapyramidal signs with choreoathetoid movements and dystonia.

WOODHOUSE-SAKATI SYNDROME Is also known as hypogonadism, alopecia, diabetes mellitus, mental retardation, deafness, and extrapyramidal syndrome|extrapyramidal disorder, progressive, with primary hypogonadism, mental retardation, and alopecia|diabetes-hypogonadism-deafness-intellectual disability s

Related symptoms:

  • Intellectual disability
  • Seizures
  • Hearing impairment
  • Scoliosis
  • Hypertelorism


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about WOODHOUSE-SAKATI SYNDROME

Medium match INTELLECTUAL DISABILITY-CATARACTS-CALCIFIED PINNAE-MYOPATHY SYNDROME


Intellectual disability-cataracts-calcified pinnae-myopathy syndrome is a rare, genetic intellectual disability syndrome characterized by macrocephaly, hypotonia, dysmorphic facial features (wide forehead, ptosis, downslanting palpebral fissures, enlarged and calcified external ears, large jaw), sparse body hair, tall stature, and intellectual disability. Hearing loss, insulin-resistant diabetes, and progressive distal muscle wasting (leading to joint contractures) have also been reported in adulthood. Rare manifestations include behavioral abnormalities (aggression and restlessness), hypothyroidism, cerebral calcification, ataxia, and peripheral neuropathy.

INTELLECTUAL DISABILITY-CATARACTS-CALCIFIED PINNAE-MYOPATHY SYNDROME Is also known as primrose syndrome|ossified ear cartilages with mental deficiency, muscle wasting, and bony changes

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about INTELLECTUAL DISABILITY-CATARACTS-CALCIFIED PINNAE-MYOPATHY SYNDROME

Medium match MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM TYPE II


'Microcephalic osteodysplastic primordial dwarfism type II (MOPDII) is a form of microcephalic primordial dwarfism (MPD; see this term) characterized by severe pre- and postnatal growth retardation, with marked microcephaly in proportion to body size, skeletal dysplasia, abnormal dentition, insulin resistance, and increased risk for cerebrovascular disease.'

MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM TYPE II Is also known as majewski osteodysplastic primordial dwarfism type ii|osteodysplastic primordial dwarfism, type ii|mopd ii|mopd type ii

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM TYPE II

Medium match COHEN SYNDROME; COH1


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

Medium match RETINITIS PIGMENTOSA-HEARING LOSS-PREMATURE AGING-SHORT STATURE-FACIAL DYSMORPHISM SYNDROME


SHRF is an autosomal recessive disorder characterized by short stature, brachydactyly, dysmorphic facial features, hearing loss, and visual impairment. Onset of the hearing and visual abnormalities, including retinitis pigmentosa, varies from birth to the second decade. Patients have mild intellectual disability and mild cerebellar atrophy with myelination defects on brain imaging (summary by Di Donato et al., 2016).

RETINITIS PIGMENTOSA-HEARING LOSS-PREMATURE AGING-SHORT STATURE-FACIAL DYSMORPHISM SYNDROME Is also known as retinitis pigmentosa-deafness-premature aging-short stature-facial dysmorphism syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about RETINITIS PIGMENTOSA-HEARING LOSS-PREMATURE AGING-SHORT STATURE-FACIAL DYSMORPHISM SYNDROME

Medium match LIG4 SYNDROME


LIG4 syndrome is a hereditary disorder associated with impaired DNA double-strand break repair mechanisms and characterized by microcephaly, unusual facial features, growth and developmental delay, skin anomalies, and pancytopenia, which is associated with combined immunodeficiency (CID).

LIG4 SYNDROME Is also known as dna ligase iv deficiency|ligase 4 syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Microcephaly
  • Growth delay
  • Micrognathia


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about LIG4 SYNDROME

Medium match OCULOCEREBROFACIAL SYNDROME, KAUFMAN TYPE


Oculocerebrofacial syndrome, Kaufman type is characterized by psychomotor retardation, microcephaly, upslanting palpebral fissures, eye abnormalities (microcornea, strabismus, myopia, optic atrophy), high-arched palate, preauricular skin tags and micrognathia with respiratory distress. It has been described in about 10 cases. Other anomalies can be present: long thin hands and feet, ambiguous genitalia, hypertelorism, etc. An autosomal recessive mode of inheritance seems most likely.

OCULOCEREBROFACIAL SYNDROME, KAUFMAN TYPE Is also known as mendenhall syndrome|rabson-mendenhall syndrome

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about OCULOCEREBROFACIAL SYNDROME, KAUFMAN TYPE

Top 5 symptoms//phenotypes associated to Downslanted palpebral fissures and Diabetes mellitus

Symptoms // Phenotype % cases
Intellectual disability Very Common - Between 80% and 100% cases
Global developmental delay Common - Between 50% and 80% cases
Micrognathia Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Downslanted palpebral fissures and Diabetes mellitus. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Hypothyroidism

Uncommon Symptoms - Between 30% and 50% cases


Hearing impairment

Common Symptoms - More than 50% cases


Scoliosis

Uncommon Symptoms - Between 30% and 50% cases


Delayed speech and language development Retrognathia Epicanthus Microcephaly Growth delay Sensorineural hearing impairment Cryptorchidism Abnormality of the skeletal system High forehead Abnormal facial shape Generalized hypotonia Strabismus Upslanted palpebral fissure High palate Protruding ear Intellectual disability, mild Behavioral abnormality Myopia Prominent nasal bridge Prominent nose Truncal obesity Insulin-resistant diabetes mellitus Intrauterine growth retardation Hypoplasia of the corpus callosum Pectus excavatum Malar flattening Nystagmus Macrotia Sparse hair Small for gestational age Delayed puberty Delayed myelination Fine hair Brachycephaly Sparse scalp hair Clinodactyly of the 5th finger Mandibular prognathia Low-set ears Ptosis Precocious puberty Depressed nasal bridge Optic atrophy Wide nasal bridge Thin upper lip vermilion Frontal bossing Kyphoscoliosis

Rare Symptoms - Less than 30% cases


Wide mouth Congenital hypothyroidism Recurrent infections Gait disturbance Peripheral neuropathy Hypertelorism Rod-cone dystrophy Abnormality of upper lip Thrombocytopenia Aplasia/Hypoplasia of the earlobes Motor delay Short palpebral fissure Alopecia Visual impairment Schizophrenia Failure to thrive Posteriorly rotated ears Brachydactyly Telecanthus Hypertrichosis Bilateral sensorineural hearing impairment Highly arched eyebrow Abnormality of the dentition Thin vermilion border Hypermetropia Babinski sign Short philtrum Hypogonadism Narrow chest Microphthalmia Kyphosis Preauricular skin tag Low anterior hairline Anteverted nares Macrocephaly Deeply set eye Anemia Cataract Neoplasm Synophrys Genu valgum Chorioretinal dystrophy Short distal phalanx of finger Hypoplasia of the maxilla Microcornea Otitis media Aplasia/Hypoplasia of the eyebrow Flat occiput Hip dysplasia Hypergonadotropic hypogonadism High, narrow palate Arachnodactyly Smooth philtrum Obesity Dilatation Respiratory distress Narrow mouth Joint hyperflexibility Autism Stroke Delayed skeletal maturation Microdontia Downturned corners of mouth Disproportionate tall stature Acanthosis nigricans Full cheeks Hyperglycemia Facial asymmetry Laryngomalacia Convex nasal ridge Dry skin Reduced number of teeth Dysarthria Exotropia Intellectual disability, severe Abnormality of skin pigmentation Abnormality of dental morphology Postnatal growth retardation Lumbar hyperlordosis Hyperplasia of the maxilla Pes planus Feeding difficulties Open mouth Long fingers Clumsiness Gait ataxia Epidermal acanthosis Hyperlordosis Type II diabetes mellitus Ketoacidosis Maternal diabetes High pitched voice Joint laxity Renal hypoplasia Thick vermilion border Retinal dystrophy Retinal detachment Iris coloboma Tapered finger Single transverse palmar crease Small hand Long eyelashes Neutropenia Mitral valve prolapse Long clavicles Ulnar bowing Shortening of all distal phalanges of the fingers Abnormality of female external genitalia Narrow pelvis bone Large sella turcica High myopia Decreased fetal movement Narrow forehead Short 1st metacarpal Pigmentary retinopathy Progressive visual loss Aciduria Abnormality of the cerebral vasculature Thick eyebrow Short metacarpal Pseudoepiphyses Forearm undergrowth Growth hormone deficiency Nyctalopia Joint hypermobility Areas of hypopigmentation and hyperpigmentation that do not follow Blaschko lines Blindness Edema Radial bowing Cardiomyopathy Arterial stenosis Ventricular septal defect Moyamoya phenomenon Muscular hypotonia Proximal femoral epiphysiolysis Hernia Rootless teeth High iliac wings Alveolar process hypoplasia Projectile vomiting Overtubulated long bones Increased intraocular pressure Ivory epiphyses Generalized microdontia Straight clavicles Thin clavicles Visual loss Retinal degeneration Pseudoepiphyses of the metacarpals Astigmatism Hypoplastic scapulae Severe global developmental delay Neurological speech impairment Finger syndactyly Tracheal stenosis Retinopathy Severe postnatal growth retardation Paralysis Cerebellar hypoplasia Respiratory tract infection Feeding difficulties in infancy Hypoplastic iliac wing Intellectual disability, moderate Arthritis Neonatal hypotonia Gastroesophageal reflux Reduced visual acuity Distal symphalangism Tall stature Tapetoretinal degeneration Gingival overgrowth Pancytopenia Abnormality of bone marrow cell morphology Abnormality of chromosome stability Acute leukemia Severe combined immunodeficiency Biparietal narrowing Telangiectasia of the skin Combined immunodeficiency Leukocytosis Psoriasiform dermatitis Myelodysplasia Telangiectasia Cutaneous photosensitivity Hypoplasia of penis Large beaked nose Lymphoma Lymphadenopathy Malabsorption Leukemia Erythema Abnormality of the nervous system Immunodeficiency Hepatomegaly Broad distal phalanx of finger Wide nasal base Broad columella Corneal dystrophy Progressive hearing impairment Bird-like facies Respiratory failure Broad nasal tip Ovarian neoplasm Postprandial hyperglycemia Muscle flaccidity Diabetic ketoacidosis Abnormal lip morphology Choroideremia Thin eyebrow Advanced eruption of teeth Long penis Fasting hypoglycemia Thick nail Abnormality of the optic nerve Long foot Protuberant abdomen Absent eyebrow Dyspnea Clitoral hypertrophy Lipodystrophy Hyperinsulinemia Narrow face Insulin resistance Specific learning disability Sepsis Abdominal distention Hirsutism Long face Blepharophimosis Hypoglycemia Coarse facial features Broad thumb Low-set, posteriorly rotated ears Abnormality of retinal pigmentation Abnormality of the hip bone Facial hypotonia Vocal cord paralysis Microglossia Gingivitis Posterior subcapsular cataract Hiatus hernia Peripheral visual field loss Thoracic scoliosis Subcapsular cataract Weak cry Celiac disease Narrow nasal bridge Cerebral hemorrhage Deep venous thrombosis Constriction of peripheral visual field Cubitus valgus Rheumatoid arthritis Failure to thrive in infancy Intracranial hemorrhage Radioulnar synostosis Short metatarsal Recurrent skin infections Venous thrombosis Leukopenia Sandal gap Intellectual disability, progressive Progressive microcephaly Misalignment of teeth Furrowed tongue Glaucoma Narrow philtrum Long philtrum Short nose Cerebellar atrophy Hypertension Slender toe Cat cry Hypoplastic philtrum Childhood-onset truncal obesity Macrodontia of permanent maxillary central incisor Prominent eyelashes Thick corpus callosum High-pitched cry Chorioretinal dysplasia Narrow palm Macular edema Hemeralopia Cutis gyrata of scalp Laryngeal stenosis Congenital neutropenia Granulocytopenia Bull's eye maculopathy Macrodontia Iris atrophy Thick hair Dilatation of the cerebral artery Recurrent aphthous stomatitis Abnormality of the larynx Bone spicule pigmentation of the retina Severe intrauterine growth retardation Posterior polar cataract Proportionate short stature Urethral stenosis Hyperreflexia Cognitive impairment Unicornuate uterus Pancreatic aplasia Pica Ureteral atresia Aplasia of the vagina Hypoplasia of the bladder Ureterocele Hyperconvex nail Subcortical cerebral atrophy Hyperechogenic kidneys Dystonia Long toe Aplasia of the uterus Maturity-onset diabetes of the young Ovarian cyst Upper limb undergrowth Shawl scrotum Unilateral renal agenesis Language impairment Focal impaired awareness seizure Renal hypoplasia/aplasia Multicystic kidney dysplasia Diarrhea Abnormality of metabolism/homeostasis Sparse and thin eyebrow Abnormality of extrapyramidal motor function Hypoplasia of the uterus Sparse eyebrow Premature ovarian insufficiency Hyperlipidemia Purpura Hypogonadotrophic hypogonadism Hallucinations Choreoathetosis Primary amenorrhea Myocardial infarction Psychosis Dehydration Micropenis Amenorrhea Decreased testicular size Dental malocclusion Triangular face Polyneuropathy Sensory neuropathy Abnormality of movement Hypotrichosis Arthrogryposis multiplex congenita Camptodactyly Mental deterioration Horizontal nystagmus Large fontanelles Heart block Overlapping toe Spasticity Severe expressive language delay Laryngotracheomalacia Hypoplastic helices Mild myopia Ureteral stenosis Expressive language delay Thoracic kyphoscoliosis Vertebral clefting Long hallux Small face Optic nerve hypoplasia Dysmetria Narrow palate Pointed chin Stereotypy Dental crowding Mitral regurgitation Renal agenesis Bulbous nose Pectus carinatum Anxiety Constipation Clinodactyly Tremor Round face Recurrent urinary tract infections Kinetic tremor Small nail Oligohydramnios Short foot Short palm Stage 5 chronic kidney disease Nail dystrophy Hydronephrosis Elevated hepatic transaminase Cerebral atrophy Renal insufficiency Increased vertebral height Recurrent hypoglycemia Hypotelorism Prominent superficial veins Down-sloping shoulders Brisk reflexes Polyuria Hypoplasia of the brainstem Polydipsia Oligodontia Type I diabetes mellitus Truncal ataxia Abnormal vertebral morphology Blue sclerae Autoimmune thrombocytopenia Anodontia Multiple cafe-au-lait spots Basilar impression Headache Vomiting Atrial septal defect Ventriculomegaly Superiorly displaced ears Calcification of the auricular cartilage Increased size of the mandible Absent facial hair Posterior scalloping of vertebral bodies Torus palatinus Motor tics Absent axillary hair Patent ductus arteriosus Abnormal glucose tolerance Narrow iliac wings Ectopic calcification Recurrent ear infections Bone cyst Generalized osteoporosis Tics Dystrophic fingernails Broad face Progressive gait ataxia Thoracic kyphosis Hypospadias Recurrent respiratory infections Irregular vertebral endplates Coxa valga Disproportionate short stature Slender long bone Tibial bowing Limited elbow extension Flared metaphysis Short middle phalanx of finger Cone-shaped epiphysis Nasal speech Hypopigmented skin patches Narrow palpebral fissure Coxa vara Cafe-au-lait spot Severe short stature Abnormality of epiphysis morphology Hypoplasia of dental enamel Abnormality of the metaphysis Hemiparesis Sloping forehead Limb undergrowth Underdeveloped nasal alae Micromelia Microtia Attention deficit hyperactivity disorder Skeletal dysplasia Poor coordination Restlessness Decreased serum testosterone level Hydrocephalus Developmental regression Aggressive behavior Conductive hearing impairment Osteopenia Osteoporosis Pes cavus Agenesis of corpus callosum Areflexia Midface retrusion Hypertonia Myopathy Skeletal muscle atrophy Broad forehead Flexion contracture Ataxia Progressive alopecia Hypoplasia of the fallopian tube Progressive extrapyramidal movement disorder Decreased serum insulin-like growth factor 1 Streak ovary Increased thyroid-stimulating hormone level Abnormal spermatogenesis Abnormal T-wave Decreased serum estradiol Abnormal pyramidal sign Congenital cataract Striae distensae Plagiocephaly Hip contracture Sparse body hair Basal ganglia calcification Ankle clonus Mixed hearing impairment Anonychia Metatarsus adductus Bilateral cryptorchidism Melanocytic nevus Self-injurious behavior Abnormal palate morphology Osteolysis Distal amyotrophy Spastic paraparesis Knee flexion contracture Paraparesis Clonus Gynecomastia Thickened skin Abnormal form of the vertebral bodies Thick lower lip vermilion Bradykinesia Cerebral calcification Nevus Neurodegeneration Onychauxis



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