Downslanted palpebral fissures, and Papule

Diseases related with Downslanted palpebral fissures and Papule

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

Top matches:

Medium match PROLIDASE DEFICIENCY

Prolidase deficiency is an inherited disorder of peptide metabolism characterized by severe skin lesions, recurrent infections (involving mainly the skin and respiratory system), dysmorphic facial features, variable cognitive impairment, and splenomegaly.

PROLIDASE DEFICIENCY Is also known as hyperimidodipeptiduria

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hearing impairment
  • Hypertelorism
  • Micrognathia


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about PROLIDASE DEFICIENCY

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

Medium match COWDEN SYNDROME

Cowden syndrome (CS) is a difficult to recognize, under-diagnosed genodermatosis characterized by the presence of multiple hamartomas in various tissues and an increased risk for malignancies of the breast, thyroid, endometrium, kidney and colorectum. When CS is accompanied by germline PTEN mutations, it belongs to the PTEN hamartoma tumor syndrome (PHTS; see this term) group.

COWDEN SYNDROME Is also known as bzs|cowden disease|bbrs|macrocephaly, multiple lipomas, and hemangiomata|pten hamartoma tumor syndrome with granular cell tumor|bannayan-zonana syndrome|macrocephaly, pseudopapilledema, and multiple hemangiomata|cs|cd|mham|pten hamartoma tumor syndrome|ri

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about COWDEN SYNDROME

Other less relevant matches:

Kosaki overgrowth syndrome is characterized by a facial gestalt involving prominent forehead, proptosis, downslanting palpebral fissures, wide nasal bridge, thin upper lip, and pointed chin. Affected individuals are tall, with an elongated lower segment, hands, and feet. Skin is hyperelastic and fragile, and there is progressive neurologic deterioration with white matter lesions on brain imaging (Takenouchi et al., 2015).

SKELETAL OVERGROWTH-CRANIOFACIAL DYSMORPHISM-HYPERELASTIC SKIN-WHITE MATTER LESIONS SYNDROME Is also known as skeletal overgrowth with facial dysmorphism, hyperelastic skin, white matter lesions, and neurologic deterioration|kosaki overgrowth syndrome

Related symptoms:

  • Scoliosis
  • Neoplasm
  • Ptosis
  • Depressed nasal bridge
  • Wide nasal bridge


SOURCES: OMIM ORPHANET MENDELIAN

More info about SKELETAL OVERGROWTH-CRANIOFACIAL DYSMORPHISM-HYPERELASTIC SKIN-WHITE MATTER LESIONS SYNDROME

INTELLECTUAL DISABILITY-EXPRESSIVE APHASIA-FACIAL DYSMORPHISM SYNDROME Is also known as intellectual disability-loss of expressive language-facial dysmorphism syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hypertelorism
  • Ptosis


SOURCES: ORPHANET OMIM MENDELIAN

More info about INTELLECTUAL DISABILITY-EXPRESSIVE APHASIA-FACIAL DYSMORPHISM SYNDROME

Otofaciocervical syndrome (OTFCS) is a rare disorder characterized by facial anomalies, cup-shaped low-set ears, preauricular fistulas, hearing loss, branchial defects, skeletal anomalies including vertebral defects, low-set clavicles, winged scapulae, sloping shoulders, and mild intellectual disability (summary by Pohl et al., 2013).For a discussion of genetic heterogeneity of otofaciocervical syndrome, see OTFCS1 (OMIM ).

OTOFACIOCERVICAL SYNDROME 2; OTFCS2 Is also known as ofc2

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Low-set ears
  • Downslanted palpebral fissures
  • Abnormality of the skeletal system


SOURCES: OMIM MENDELIAN

More info about OTOFACIOCERVICAL SYNDROME 2; OTFCS2

Related symptoms:

  • Short stature
  • Hypertelorism
  • Low-set ears
  • Depressed nasal bridge
  • Epicanthus


SOURCES: OMIM MENDELIAN

More info about LEOPARD SYNDROME 2; LPRD2

Neurofibromatosis-Noonan syndrome (NFNS) is a RASopathy and a variant of neurofibromatosis type 1 (NF1) characterized by the combination of features of NF1, such as café-au-lait spots, iris Lisch nodules, axillary and inguinal freckling, optic nerve glioma and multiple neurofibromas, and Noonan syndrome (NS), such as short stature, typical facial features (hypertelorism, ptosis, downslanting palpebral fissures, low-set posteriorly rotated ears with a thickened helix, and a broad forehead), congenital heart defects and unusual pectus deformity. As these three entities have significant phenotypic overlap, molecular genetic testing is often necessary for a correct diagnosis (such as when café-au-lait spots are present in patients diagnosed with NS).

NEUROFIBROMATOSIS-NOONAN SYNDROME Is also known as nfns|neurofibromatosis type 1-noonan syndrome

Related symptoms:

  • Short stature
  • Hypertelorism
  • Cryptorchidism
  • Ptosis
  • Downslanted palpebral fissures


SOURCES: ORPHANET MENDELIAN

More info about NEUROFIBROMATOSIS-NOONAN SYNDROME

Deafness with labyrinthine aplasia, microtia, and microdontia (LAMM) is a genetic transmission deafness syndrome.

DEAFNESS WITH LABYRINTHINE APLASIA, MICROTIA, AND MICRODONTIA Is also known as microdontia-type i microtia-deafness syndrome|deafness, congenital, with labyrinthine aplasia, microtia, and microdontia|deafness with lamm|lamm syndrome

Related symptoms:

  • Hearing impairment
  • Hypertelorism
  • Micrognathia
  • Strabismus
  • Sensorineural hearing impairment


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about DEAFNESS WITH LABYRINTHINE APLASIA, MICROTIA, AND MICRODONTIA

Low match MONOSOMY 5P

Monosomy 5p, also known as Cri du chat syndrome, is a rare autosomal deletion syndrome characterized by a mewing cry (cri du chat) in infancy, multiple congenital anomalies, intellectual disability, microcephaly, and facial dysmorphism.

MONOSOMY 5P Is also known as cri du chat syndrome|deletion 5p

Related symptoms:

  • Short stature
  • Microcephaly
  • Scoliosis
  • Hypertelorism
  • Muscular hypotonia


SOURCES: ORPHANET MENDELIAN

More info about MONOSOMY 5P

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

Symptoms // Phenotype % cases
Hypertelorism Common - Between 50% and 80% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Hearing impairment Uncommon - Between 30% and 50% cases
Scoliosis Uncommon - Between 30% and 50% cases
Wide nasal bridge Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Short stature Low-set ears High palate Micrognathia Ptosis Palmoplantar keratoderma Epicanthus Motor delay Skin tags Carious teeth Intellectual disability, mild Neoplasm Pointed chin Global developmental delay Depressed nasal bridge Cafe-au-lait spot Proptosis

Rare Symptoms - Less than 30% cases

Pectus excavatum Syndactyly Brachycephaly Hydrocephalus Abnormality of the skeletal system Cataract Frontal bossing Macrocephaly Brachydactyly Microretrognathia Cryptorchidism Pain Strabismus Ataxia Microcephaly Short neck Mandibular prognathia Cerebral calcification Retrognathia Down-sloping shoulders Overgrowth Intellectual disability, moderate Autism Multiple cafe-au-lait spots Seizures Ovarian carcinoma Fibroma Hamartomatous polyposis Astrocytoma Abnormality of the sternum EEG abnormality Melanocytic nevus Neoplasm of the skin Thin upper lip vermilion Tall stature Exotropia Webbed neck Dolichocephaly Synophrys Carcinoma Hypertrophic cardiomyopathy Long face Low-set, posteriorly rotated ears Prominent forehead Dry skin Arachnodactyly Diarrhea Intellectual disability, severe Thin skin Recurrent infections Delayed speech and language development Follicular thyroid carcinoma Recurrent fractures Inguinal hernia Pseudopapilledema Furrowed tongue Progressive macrocephaly Abnormality of the uterus Ovarian cyst Intestinal polyposis Bone cyst Colorectal polyposis Cellular immunodeficiency Long penis Cavernous hemangioma Endometrial carcinoma Enlarged polycystic ovaries Papilloma Severe global developmental delay Subcutaneous lipoma Varicocele Thyroid adenoma Intestinal polyp Angioid streaks of the fundus Abnormality of the penis Finger syndactyly Colonic diverticula Generalized hyperkeratosis Adenoma sebaceum Decreased proportion of CD4-positive T cells Hydrocele testis Joint hyperflexibility Small hand Neoplasm of the central nervous system Arteriovenous malformation Prolactin excess Meningioma Goiter High pitched voice Cutis marmorata Hand polydactyly Intracranial hemorrhage Dysdiadochokinesis Incoordination Palmoplantar hyperkeratosis Breast carcinoma Abnormality of the thyroid gland Melanoma Hypopigmented skin patches Abnormality of bone mineral density Increased intracranial pressure Hemangioma Drooling Cranial nerve paralysis Macule Multiple lipomas Megalencephaly Renal cell carcinoma Acrokeratosis Papilledema Abnormality of the vasculature Lipoma Round face Scaphocephaly Hashimoto thyroiditis Hodgkin lymphoma Cystic hygroma Preauricular skin tag Thyroiditis Ovarian neoplasm Hyperthyroidism Hamartoma Acute myeloid leukemia Abnormality of the voice Cellulitis Mucosal telangiectasiae Fibroadenoma of the breast Transitional cell carcinoma of the bladder Widely spaced teeth Abnormality of the pinna Microtia Scapular winging Hypodontia Prominent nose Underdeveloped nasal alae Microdontia Abnormality of the outer ear Cutaneous syndactyly Delayed gross motor development Congenital sensorineural hearing impairment Long eyelashes High hypermetropia Blue sclerae Increased number of teeth Dental malocclusion Sensorineural hearing impairment Abdominal wall muscle weakness Gliosis Mastoiditis Multiple lentigines Curly hair Cubitus valgus Thick lower lip vermilion Pulmonic stenosis Specific learning disability Abnormality of the face Alacrima Abnormality of the lymphatic system Lacrimal duct stenosis Mixed hearing impairment Preauricular pit Cupped ear Abnormality of the thorax Prolonged bleeding time Abnormality of the helix Arachnoid cyst Tapered finger Neoplasm of the thyroid gland Merkel cell skin cancer Muscular hypotonia Progressive neurologic deterioration Anxiety Intrauterine growth retardation Depressivity Lobular carcinoma in situ Multiple trichilemmomata Ductal carcinoma in situ Hallucinations Conjunctival hamartoma Dysplastic gangliocytoma of the cerebellum Abnormality of cardiovascular system morphology Trichilemmoma Enlarged cerebellum Cutis marmorata telangiectatica congenita Dysphagia Absent stapes Aplasia of the inner ear Clinodactyly Attention deficit hyperactivity disorder Abnormal cranial nerve morphology Narrow palate Conical tooth Dental crowding Anteverted ears Profound sensorineural hearing impairment Microtia, first degree Absent speech Cochlear aplasia Auditory hallucinations Xanthelasma Long foot Thoracolumbar scoliosis Fragile skin Narrow nasal bridge Prominent supraorbital ridges Hyperextensible skin Lymphopenia Myopia Gynecomastia White forelock Cleft palate Recurrent cystitis Diffuse telangiectasia Crusting erythematous dermatitis Facial hirsutism Poliosis Abnormality of the middle ear Concave nasal ridge Dysarthria Chronic lung disease Hypoplasia of the zygomatic bone Prolonged neonatal jaundice Abnormality of the immune system Aplasia/Hypoplasia of the skin Abnormality of the hip bone Elevated erythrocyte sedimentation rate Petechiae Spasticity Abnormality of the dentition Osteomyelitis Facial palsy Postaxial polydactyly Iris coloboma Oral cleft Cleft upper lip Hypotrichosis Coloboma Sparse hair Cleft lip Microphthalmia Telecanthus Proteinuria Coarse facial features Kyphoscoliosis Polydactyly Glaucoma Abdominal pain Visual loss Increased antibody level in blood Psoriasiform dermatitis Hypotension Thrombocytopenia Erythema Elevated hepatic transaminase Hepatosplenomegaly High forehead Hyperkeratosis Recurrent respiratory infections Obesity Abnormality of metabolism/homeostasis Pruritus Malar flattening Short nose Splenomegaly Vomiting Hepatomegaly Visual impairment Anemia Abnormal facial shape Skin rash Genu valgum Systemic lupus erythematosus Abnormality of retinal pigmentation Reduced bone mineral density Abnormality of the fingernails Generalized hirsutism Recurrent pneumonia Bilateral single transverse palmar creases Low anterior hairline Skin ulcer Lymphedema Abnormal lung morphology Hirsutism Inflammatory abnormality of the skin Depressed nasal ridge Cutaneous photosensitivity Low posterior hairline Hepatitis Dehydration Convex nasal ridge Asthma Nevus Abnormality of the ribs Chronic diarrhea Hamartomatous stomach polyps Atrial septal defect Tremor Skeletal muscle atrophy Cognitive impairment Muscle weakness Failure to thrive Generalized hypotonia Irregular ossification of hand bones Kyphosis Cardiac fibroma Bridged sella turcica Plantar pits Ovarian fibroma Odontogenic keratocysts of the jaw Cardiac rhabdomyoma Bifid ribs Curved fingers Myopathy Immunodeficiency Calcification of falx cerebri Hypoplasia of the maxilla Telangiectasia Subcutaneous nodule Broad thumb Intention tremor Decreased antibody level in blood Lymphoma Macroglossia Abnormal cerebellum morphology Polymicrogyria Headache Joint hypermobility Nausea and vomiting Leukemia Abnormality of the kidney Proximal muscle weakness Hypothyroidism Narrow mouth Dilatation Histiocytoma Orbital cyst Hemiparesis Glomerulonephritis Agenesis of permanent teeth Long fingers Basal cell carcinoma Milia Disproportionate tall stature Inflammation of the large intestine Nephritis Relative macrocephaly Colitis Spina bifida occulta Hemivertebrae Hypogonadotrophic hypogonadism Muscle stiffness Short ribs Spina bifida Bradycardia Hyperpigmentation of the skin Vertebral fusion Thoracic scoliosis Palmar pits Ectopic calcification Short distal phalanx of the thumb Severe hydrocephalus Multiple impacted teeth Parietal bossing Vertebral wedging Abnormality of the sense of smell Cervical ribs Supernumerary ribs Medulloblastoma Sprengel anomaly Brain neoplasm Ulcerative colitis Broad face Neoplasm of the endocrine system Abnormality of the neck Short 4th metacarpal Fragile nails Narrow nose Cat cry


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