Downslanted palpebral fissures, and Hypotrichosis

Diseases related with Downslanted palpebral fissures and Hypotrichosis

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


Top matches:

High match ECTODERMAL DYSPLASIA 14, HAIR/TOOTH TYPE WITH OR WITHOUT HYPOHIDROSIS; ECTD14


Some ectodermal dysplasias are here classified as congenital disorders characterized by abnormal development in 2 or more ectodermal structures (hair, nails, teeth, and sweat glands) without other systemic findings.Ectodermal dysplasia-14 of the hair/tooth type is primarily characterized by scalp hypotrichosis and hypodontia. Some patients have decreased sweating, and some show subtle facial dysmorphism (Peled et al., 2016).

Related symptoms:

  • Abnormal facial shape
  • Downslanted palpebral fissures
  • Hyperhidrosis
  • Hypotrichosis
  • Thick vermilion border


SOURCES: OMIM MENDELIAN

More info about ECTODERMAL DYSPLASIA 14, HAIR/TOOTH TYPE WITH OR WITHOUT HYPOHIDROSIS; ECTD14

High match ZLOTOGORA-OGUR SYNDROME


Zlotogora-Ogur syndrome is an ectodermal dysplasia syndrome characterized by hair, skin and teeth anomalies, facial dysmophism with cleft lip and palate, cutaneous syndactyly and, in some cases, intellectual disability.

ZLOTOGORA-OGUR SYNDROME Is also known as cleft lip/palate-ectodermal dysplasia syndrome|clped1|ed4|syndactyly-ectodermal dysplasia-cleft/lip palate|cleft lip/palate-syndactyly-pili torti syndrome|ectodermal dysplasia, margarita island type|ectodermal dysplasia, cleft lip and palate, mental retar

Related symptoms:

  • Intellectual disability
  • Seizures
  • Micrognathia
  • Cleft palate
  • Wide nasal bridge


SOURCES: ORPHANET OMIM MENDELIAN

More info about ZLOTOGORA-OGUR SYNDROME

High match ROSSELLI-GULIENETTI SYNDROME


Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Micrognathia
  • Cleft palate


SOURCES: OMIM MENDELIAN

More info about ROSSELLI-GULIENETTI SYNDROME

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Other less relevant matches:

High 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

High match INTELLECTUAL DISABILITY-SPARSE HAIR-BRACHYDACTYLY SYNDROME


Intellectual disability-sparse hair-brachydactyly syndrome is a very rare condition of unknown etiology consisting of short stature, hypotrichosis, brachydactyly with cone-shaped epiphyses, epilepsy and severe mental delay. After the initial delineation of this syndrome by Nicolaides and Baraitser in 1993, only five more patients were published in the literature up to now.

INTELLECTUAL DISABILITY-SPARSE HAIR-BRACHYDACTYLY SYNDROME Is also known as sparse hair and mental retardation|nbs|nicolaides-baraitser syndrome

Related symptoms:

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


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about INTELLECTUAL DISABILITY-SPARSE HAIR-BRACHYDACTYLY SYNDROME

High match ROBERTS SYNDROME


Roberts syndrome (RBS) is characterized by pre- and postnatal growth retardation, severe symmetric limb reduction defects, craniofacial anomalies and severe intellectual deficit. SC phocomelia is a milder form of RBS.

ROBERTS SYNDROME Is also known as pseudothalidomide syndrome|roberts-sc phocomelia syndrome|sc pseudothalidomide syndrome|sc phocomelia

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about ROBERTS SYNDROME

High match NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR


Noonan-like syndrome with loose anagen hair (NS/LAH) is a Noonan-related syndrome, characterized by facial anomalies suggestive of Noonan syndrome (see this term); a distinctive hair anomaly described as loose anagen hair syndrome (see this term); frequent congenital heart defects; distinctive skin features with darkly pigmented skin, keratosis pilaris, eczema or occasional neonatal ichtyosis (see this term); and short stature, often associated with a GH deficiency and psychomotor delays.

NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR Is also known as ns/lah|tosti syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR

High match NOONAN SYNDROME 1; NS1


Noonan syndrome (NS) is an autosomal dominant disorder characterized by short stature, facial dysmorphism, and a wide spectrum of congenital heart defects. The distinctive facial features consist of a broad forehead, hypertelorism, downslanting palpebral fissures, a high-arched palate, and low-set, posteriorly rotated ears. Cardiac involvement is present in up to 90% of patients. Pulmonic stenosis and hypertrophic cardiomyopathy are the most common forms of cardiac disease, but a variety of other lesions are also observed. Additional relatively frequent features include multiple skeletal defects (chest and spine deformities), webbed neck, mental retardation, cryptorchidism, and bleeding diathesis (summary by Tartaglia et al., 2002). Genetic Heterogeneity of Noonan SyndromeSee also NS3 (OMIM ), caused by mutation in the KRAS gene (OMIM ); NS4 (OMIM ), caused by mutation in the SOS1 gene (OMIM ); NS5 (OMIM ), caused by mutation in the RAF1 gene (OMIM ); NS6 (OMIM ), caused by mutation in the NRAS gene (OMIM ); NS7 (OMIM ), caused by mutation in the BRAF gene (OMIM ); NS8 (OMIM ), caused by mutation in the RIT1 gene (OMIM ); NS9 (OMIM ), caused by mutation in the SOS2 gene (OMIM ); and NS10 (OMIM ), caused by mutation in the LZTR1 gene (OMIM ).See also NS2 (OMIM ) for a possible autosomal recessive form of NS; Noonan syndrome-like disorder with loose anagen hair-1 (NSLH1 ), caused by mutation in the SHOC2 gene (OMIM ); Noonan syndrome-like disorder with loose anagen hair-2 (NSLH2 ), caused by mutation in the PPP1CB gene (OMIM ); and Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia (NSLL ), caused by mutation in the CBL gene (OMIM ).Mutations in the neurofibromin gene (NF1 ), which is the site of mutations causing classic neurofibromatosis type I (NF1 ), have been found in neurofibromatosis-Noonan syndrome (NFNS ).

NOONAN SYNDROME 1; NS1 Is also known as female pseudo-turner syndrome|male turner syndrome|noonan syndrome|turner phenotype with normal karyotype

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about NOONAN SYNDROME 1; NS1

High match BASAL CELL NEVUS SYNDROME; BCNS


BASAL CELL NEVUS SYNDROME; BCNS Is also known as nevoid basal cell carcinoma syndrome|gorlin-goltz syndrome|gorlin syndrome|nbccs|multiple basal cell nevi, odontogenic keratocysts, and skeletal anomalies

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Microcephaly
  • Scoliosis
  • Ataxia


SOURCES: OMIM MENDELIAN

More info about BASAL CELL NEVUS SYNDROME; BCNS

High match MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM TYPES I AND III


Microcephalic osteodysplastic primordial dwarfism (MOPD) types 1 and 3 are characterized by intrauterine and postnatal growth retardation, microcephaly, facial dysmorphism, skeletal dysplasia, low-birth weight and brain anomalies. Although MOPD types 1 and 3 were originally described as two separate entities on the basis of radiological criteria (notably small differences in pelvic and long bone structure), later reports confirmed that the two forms represent different modes of expression of the same syndrome.

MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM TYPES I AND III Is also known as microcephalic osteodysplastic primordial dwarfism, taybi-linder type|low-birth-weight dwarfism with skeletal dysplasia|mopd i|mopd types i and iii|osteodysplastic primordial dwarfism, type i|primordial microcephalic dwarfism, crachami type|mopd|cephaloske

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM TYPES I AND III

Top 5 symptoms//phenotypes associated to Downslanted palpebral fissures and Hypotrichosis

Symptoms // Phenotype % cases
Intellectual disability Very Common - Between 80% and 100% cases
Sparse hair Very Common - Between 80% and 100% cases
Micrognathia Common - Between 50% and 80% cases
Seizures 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 Downslanted palpebral fissures and Hypotrichosis. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Cryptorchidism

Uncommon Symptoms - Between 30% and 50% cases


Brachydactyly Hypogonadism Hypertelorism Postnatal growth retardation Cleft palate Abnormal facial shape Wide intermamillary distance Sparse scalp hair Microcephaly Growth delay Triangular face Hearing impairment Scoliosis Bilateral single transverse palmar creases Cleft upper lip Carious teeth High palate Retrognathia Proptosis Posteriorly rotated ears Abnormality of cardiovascular system morphology Short neck Alopecia Short stature Malar flattening Glaucoma Anodontia Atrial septal defect Ventricular septal defect Epicanthus Generalized hypotonia Feeding difficulties Intrauterine growth retardation Strabismus Delayed skeletal maturation Anteverted nares Hypothyroidism Brachycephaly High, narrow palate Sensorineural hearing impairment Neoplasm Cognitive impairment Intellectual disability, mild Pain Cataract Pectus excavatum Low-set ears Aplasia/Hypoplasia of the eyebrow Sparse and thin eyebrow Hypodontia Ectodermal dysplasia Hypohidrosis Wide nasal bridge Syndactyly Macrotia EEG abnormality Cleft lip Protruding ear Finger syndactyly Synophrys Oral cleft Highly arched eyebrow Failure to thrive Coarctation of aorta Sparse eyelashes

Rare Symptoms - Less than 30% cases


Hyperpigmentation of the skin Status epilepticus Short palm Webbed neck Short metacarpal Specific learning disability Eczema Absence seizures Thick lower lip vermilion Small for gestational age Sandal gap Abnormality of the metacarpal bones Overfolded helix Epileptic spasms Abnormality of finger Thin vermilion border Depressed nasal bridge Broad distal phalanx of finger Spasticity Muscle stiffness Polydactyly Low-set, posteriorly rotated ears Hypertrophic cardiomyopathy Abnormality of the skeletal system Gastroesophageal reflux Kyphoscoliosis Coarse facial features Abdominal pain Hernia Fever Severe short stature Osteoporosis Pulmonic stenosis Abnormality of the testis Loose anagen hair Nystagmus Hip contracture Premature birth Hemiparesis Bowing of the long bones Short thumb Knee flexion contracture Radial deviation of finger Failure to thrive in infancy Arnold-Chiari type I malformation Patent foramen ovale Low posterior hairline Macrocephaly Relative macrocephaly Severe intrauterine growth retardation Arnold-Chiari malformation Corneal opacity Craniosynostosis Ptosis Dolichocephaly Superior pectus carinatum Flexion contracture Vomiting Congestive heart failure Microphthalmia Dilatation Clinodactyly Hydrocephalus Clinodactyly of the 5th finger Ventricular hypertrophy Abnormality of the intervertebral disk Fragile nails Cardiomyopathy Polyhydramnios Thrombocytopenia Patent ductus arteriosus Hypogonadotrophic hypogonadism Abnormality of dental morphology Dystrophic fingernails Dysarthria Midface retrusion Sparse lateral eyebrow Recurrent respiratory infections Abnormality of the kidney Frontal bossing Dystrophic toenail Bilateral cleft lip and palate Cutaneous finger syndactyly Myocardial infarction Abnormality of the ear Primary amenorrhea Thick vermilion border Prominent nasal bridge Hyperlordosis Abnormality of the ureter Micropenis High forehead Abnormality of the dentition Pili torti Neurological speech impairment Dental malocclusion Abnormality of dental enamel Scrotal hypoplasia Palmoplantar hyperkeratosis Hyperhidrosis Microdontia Delayed speech and language development Cutaneous syndactyly of toes Amenorrhea Fine hair Nail dysplasia Prominent nose Toe syndactyly Pterygium Progressive hypotrichosis Abnormality of the philtrum Spina bifida occulta Neoplasm of the skin Nephritis Hemivertebrae Melanocytic nevus Short ribs Glomerulonephritis Progressive alopecia Inflammation of the large intestine Down-sloping shoulders Ectopic calcification Medulloblastoma Astrocytoma Brain neoplasm Ulcerative colitis Broad face Neoplasm of the endocrine system Abnormality of the neck Short 4th metacarpal Skin tags Narrow nose Disproportionate tall stature Sprengel anomaly Thoracic scoliosis Abnormality of the sternum Colitis Vertebral fusion Agenesis of permanent teeth Bradycardia Long fingers Basal cell carcinoma Milia Spina bifida Postaxial polydactyly Exotropia Drusen Hypoplastic aortic arch Lymphangioma Optic disc hypoplasia Asymmetry of the thorax Multiple lentigines Schwannoma Synovitis Shield chest Restrictive cardiomyopathy Atrial flutter Nonimmune hydrops fetalis Malignant hyperthermia Reduced factor XII activity Gonadal dysgenesis Abnormality of blood and blood-forming tissues Neuroblastoma Abnormality of the vertebral column Male infertility Cystic hygroma Neurofibromas Abnormality of color vision Leukocytosis Abnormality of the coagulation cascade Cubitus valgus Myelodysplasia Amegakaryocytic thrombocytopenia Neurofibrosarcoma Abnormality of the ribs Carcinoma Cerebral calcification Hypotension Nevus Palmoplantar keratoderma Cervical ribs Iris coloboma Arachnodactyly Papule Coloboma Facial palsy Telecanthus Proteinuria Mandibular prognathia Panuveitis Visual loss Hypertrichosis Motor delay Conical tooth Ataxia Postductal coarctation of the aorta Preductal coarctation of the aorta Nasogastric tube feeding Reduced factor XIII activity Gonadal neoplasm Pectus excavatum of inferior sternum Juvenile myelomonocytic leukemia Supernumerary ribs Severe hydrocephalus Hamartomatous polyposis Cortical gyral simplification Flat acetabular roof Delayed epiphyseal ossification Thickened nuchal skin fold Arachnoid cyst Submucous cleft hard palate Short humerus Osteomalacia Broad palm Disproportionate short stature Prolonged neonatal jaundice Partial agenesis of the corpus callosum Long nose Femoral bowing Short femur Prominent occiput Hydroureter Multiple joint contractures Diabetes insipidus Large hands Rickets Elbow dislocation Preaxial polydactyly Abnormality of the urinary system Sacral dimple Lissencephaly Short chin Long foot Hypoplastic ilia Heterotopia Aplasia/hypoplasia of the femur Cleft vertebral arch Absent knee epiphyses Enlarged metaphyses Bowed humerus Bifid femur Abnormality of the tragus Shoulder flexion contracture Abnormality of the pubic bone Abnormality of the distal phalanx of finger Loss of eyelashes Abnormality of calcium-phosphate metabolism Large iliac wings Small anterior fontanelle Abnormal cortical gyration Hypoplasia of the frontal lobes Abnormally ossified vertebrae Central hypothyroidism Long clavicles Aplastic clavicle Tethered cord Abnormality of the upper urinary tract Thin eyebrow Colpocephaly Profound global developmental delay Agenesis of cerebellar vermis 11 pairs of ribs Elbow flexion contracture Pachygyria Fibroma Cardiac rhabdomyoma Cerebellar hypoplasia Cerebral atrophy Hypertonia Hypoplasia of the corpus callosum Respiratory insufficiency Hamartomatous stomach polyps Irregular ossification of hand bones Cardiac fibroma Bridged sella turcica Plantar pits Ovarian fibroma Odontogenic keratocysts of the jaw Bifid ribs Respiratory failure Curved fingers Histiocytoma Calcification of falx cerebri Orbital cyst Palmar pits Short distal phalanx of the thumb Poor suck Multiple impacted teeth Ovarian carcinoma Parietal bossing Vertebral wedging Abnormality of the sense of smell Agenesis of corpus callosum Hyperkeratosis Abnormality of the metaphysis Bulbous nose Abnormal form of the vertebral bodies Cerebellar vermis hypoplasia Renal hypoplasia Hypsarrhythmia Oligohydramnios Sloping forehead Limb undergrowth Tetralogy of Fallot Delayed myelination Bifid uvula Renal cyst Single transverse palmar crease Polymicrogyria Dyspnea Dry skin Micromelia Platyspondyly Hip dislocation Microtia Abnormality of the pinna Apnea Muscular hypotonia of the trunk Abnormality of the nervous system Hydronephrosis Rigidity Skeletal dysplasia Osteopenia Elevated alkaline phosphatase Headache Bicuspid aortic valve Excessive wrinkled skin Polyneuropathy Decreased testicular size Dehydration Prominent proximal interphalangeal joints Unilateral narrow palpebral fissure Prominent interphalangeal joints Prominent eyelashes Curly eyelashes Clubbing of toes Thick nasal alae Bilateral sensorineural hearing impairment Abnormality of movement Eclabion Wide nasal base Broad columella Enlarged joints Broad philtrum Abnormality of extrapyramidal motor function Abnormal hair pattern Echolalia Psychosis Protruding tongue Narrow nasal bridge Sensory neuropathy Delayed puberty Aphasia Gait disturbance Clitoral hypertrophy Radioulnar synostosis Polycystic kidney dysplasia Hypoplasia of the radius Melanoma Hemangioma Opacification of the corneal stroma Wormian bones Hyperreflexia Aortic valve stenosis Blue sclerae Arthrogryposis multiplex congenita Underdeveloped nasal alae Diarrhea Chest pain Falls Dystonia Abnormality of metabolism/homeostasis Paralysis Babinski sign Diabetes mellitus Mental deterioration Camptodactyly Dysphasia Absent eyebrow Peripheral neuropathy Autism Smooth philtrum Poor speech Autoimmune thrombocytopenia Blepharophimosis Wide mouth Autistic behavior Insulin-resistant diabetes mellitus Aggressive behavior Deeply set eye Heart block Decreased serum testosterone level Thick eyebrow Decreased serum estradiol Abnormal T-wave Abnormal spermatogenesis Obesity Increased thyroid-stimulating hormone level Absent speech Streak ovary Long philtrum Intellectual disability, severe Decreased serum insulin-like growth factor 1 Progressive extrapyramidal movement disorder Hypoplasia of the uterus Flat occiput Cone-shaped epiphysis Abnormality of epiphysis morphology Short metatarsal Mutism Drooling Widely spaced teeth Choreoathetosis Accelerated skeletal maturation Narrow palpebral fissure Joint dislocation Hallucinations Low anterior hairline Short phalanx of finger Wide nose Long eyelashes Broad-based gait Short palpebral fissure Hypergonadotropic hypogonadism Purpura Hyperlipidemia Premature ovarian insufficiency Full cheeks Broad nasal tip Everted lower lip vermilion Sparse eyebrow Proximal placement of thumb Short femoral neck Azoospermia Broad neck Thickened helices Peripheral pulmonary artery stenosis Slow-growing hair Abnormality of refraction Redundant neck skin Enlarged cisterna magna Abnormally large globe Hypomagnesemia Hiatus hernia Abnormality of the elbow Atopic dermatitis Dermal translucency Natal tooth Freckling Neurodevelopmental delay Abnormality of coagulation Right bundle branch block Hypoplastic toenails Nail dystrophy Nasal speech Deep philtrum Coarse hair Optic nerve hypoplasia Abnormality of the pulmonary artery Abnormal location of ears Infantile muscular hypotonia Broad forehead Plagiocephaly Lymphedema Amblyopia Left ventricular hypertrophy Clumsiness Abnormal bleeding Abdominal distention Bruising susceptibility Facial asymmetry Leukemia Abnormal cardiac septum morphology Broad fingertip Hypotrichosis of the scalp Oval face Rod-cone dystrophy Constipation Abnormal heart morphology Hypoplasia of the fallopian tube Splenomegaly Edema Low insertion of columella Myopia Abnormality of the nasal bridge Increased intracranial pressure Abnormal palate morphology Absent thumb Subvalvular aortic stenosis Mesomelic arm shortening Progressive flexion contractures Absent earlobe Facial hemangioma Complete duplication of thumb phalanx Aplasia of the ulna Wrist flexion contracture Humeroradial synostosis Phocomelia Long penis Patellar aplasia Midface capillary hemangioma Abnormality of the upper limb Fair hair Low hanging columella Capillary hemangioma Upper limb undergrowth Anteverted ears External ear malformation Synostosis of carpal bones Underdeveloped supraorbital ridges Absent radius Aplasia/Hypoplasia of the thumb Tetraphocomelia Premature separation of centromeric heterochromatin Abnormality of the fingernails Joint hypermobility Hypocalcemia Hoarse voice Cafe-au-lait spot Thin skin Mitral regurgitation Abnormal dermatoglyphics Cyanosis Dandy-Walker malformation Growth hormone deficiency Brittle hair Ichthyosis Anhidrosis Pectus carinatum Attention deficit hyperactivity disorder Hypoglycemia Umbilical hernia Bilateral cleft lip Hyperactivity Prominent forehead Hypoplasia of the zygomatic bone Short nose Ventriculomegaly Scaling skin Bifid first metacarpal



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Microphthalmia and Hypoplasia of the corpus callosum, related diseases and genetic alterations Hydrocephalus and Polydactyly, related diseases and genetic alterations Muscular hypotonia and Bipolar affective disorder, related diseases and genetic alterations Leukemia and Micrognathia, related diseases and genetic alterations Short stature and Hematuria, related diseases and genetic alterations Motor delay and Hydronephrosis, related diseases and genetic alterations Dysarthria and Cerebellar hypoplasia, related diseases and genetic alterations

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