Downslanted palpebral fissures, and Delayed eruption of teeth

Diseases related with Downslanted palpebral fissures and Delayed eruption of teeth

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


Top matches:

High match GINGIVAL FIBROMATOSIS-HYPERTRICHOSIS SYNDROME


Gingival fibromatosis - hypertrichosis syndrome is a rare autosomal dominant disorder characterized by a generalized enlargement of the gingiva occurring at birth or during childhood that is associated with generalized hypertrichosis developing at birth, during the first years of life, or at puberty and predominantly affecting the face, upper limbs, and midback.

GINGIVAL FIBROMATOSIS-HYPERTRICHOSIS SYNDROME Is also known as chromosome 17q24.2-q24.3 deletion syndrome|chromosome 17q24.2-q24.3 duplication syndrome|microdeletion 17q24.2-q24.3 syndrome|congenital generalized hypertrichosis terminalis|hirsutism-congenital gingival hyperplasia syndrome|microduplication 17q24.2-q24.

Related symptoms:

  • Intellectual disability
  • Seizures
  • Hearing impairment
  • Ataxia
  • Abnormal facial shape


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about GINGIVAL FIBROMATOSIS-HYPERTRICHOSIS SYNDROME

High match OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE


OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE Is also known as odod, autosomal recessive|oculodentoosseous dysplasia, autosomal recessive|oddd, autosomal recessive

Related symptoms:

  • Global developmental delay
  • Short stature
  • Failure to thrive
  • Micrognathia
  • Cataract


SOURCES: OMIM MESH MENDELIAN

More info about OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE

High match EHLERS-DANLOS SYNDROME, SPONDYLOCHEIRODYSPLASTIC TYPE


Ehlers-Danlos syndrome, spondylocheirodysplastic type is a subtype of Ehlers-Danlos syndrome characterized by skeletal dysplasia comprising platyspondyly with moderate short stature, osteopenia and widened metaphyses, in addition to hyperextensible, thin, easily bruised skin, hypermobility of small joints with tendency to contractures, prominent eyes with bluish sclerae, wrinkled palms, atrophy of the thenar muscle and tapering fingers.

EHLERS-DANLOS SYNDROME, SPONDYLOCHEIRODYSPLASTIC TYPE Is also known as eds, spondylocheirodysplastic type|spondylocheirodysplasia, ehlers-danlos syndrome-like|scd-eds

Related symptoms:

  • Short stature
  • Growth delay
  • Failure to thrive
  • Flexion contracture
  • High palate


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about EHLERS-DANLOS SYNDROME, SPONDYLOCHEIRODYSPLASTIC TYPE

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Other less relevant matches:

High match COLE-CARPENTER SYNDROME


Cole-Carpenter syndrome is an extremely rare form of bone dysplasia characterized by the features of osteogenesis imperfecta such as bone fragility associated with multiple fractures, bone deformities (metaphyseal irregularities and bowing of the long bones) and blue sclera, in association with growth failure, craniosynostosis, hydrocephalus, ocular proptosis, and distinctive facial features (e.g. frontal bossing, midface hypoplasia, and micrognathia).

COLE-CARPENTER SYNDROME Is also known as bone fragility-craniosynostosis-proptosis-hydrocephalus syndrome|bone fragility with craniosynostosis, ocular proptosis, hydrocephalus, and distinctive facial features

Related symptoms:

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Scoliosis
  • Growth delay


SOURCES: ORPHANET OMIM MENDELIAN

More info about COLE-CARPENTER SYNDROME

High match MIDFACE HYPOPLASIA, HEARING IMPAIRMENT, ELLIPTOCYTOSIS, AND NEPHROCALCINOSIS; MFHIEN


Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis is an X-linked recessive disorder with onset of features in early childhood. Anemia is sometimes present. Some patients may show mild early motor or speech delay, but cognition is normal (summary by Andreoletti et al., 2017).

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Micrognathia


SOURCES: OMIM MENDELIAN

More info about MIDFACE HYPOPLASIA, HEARING IMPAIRMENT, ELLIPTOCYTOSIS, AND NEPHROCALCINOSIS; MFHIEN

High match CHAR SYNDROME


Char syndrome is characterized by the triad of patent ductus arteriosus (PDA), facial dysmorphism and hand anomalies.

CHAR SYNDROME Is also known as patent ductus arteriosus with facial dysmorphism and abnormal fifth digits

Related symptoms:

  • Global developmental delay
  • Hearing impairment
  • Hypertelorism
  • Strabismus
  • Abnormal facial shape


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about CHAR SYNDROME

High match AARSKOG-SCOTT SYNDROME


Aarskog-Scott syndrome (AAS) is a rare developmental disorder characterized by facial, limbs and genital features, and a disproportionate acromelic short stature.

AARSKOG-SCOTT SYNDROME Is also known as aarskog syndrome|faciodigitogenital syndrome|faciogenital dysplasia

Related symptoms:

  • Short stature
  • Hypertelorism
  • Strabismus
  • Cleft palate
  • Cryptorchidism


SOURCES: ORPHANET MENDELIAN

More info about AARSKOG-SCOTT SYNDROME

High match APERT SYNDROME


Apert syndrome (AS) is a frequent form of acrocephalosyndactyly (see this term), a group of inherited congenital malformation disorders, characterized by craniosynostosis (see this term), midface hypoplasia, and finger and toe anomalies and/or syndactyly.

APERT SYNDROME Is also known as acrocephalosyndactyly type 1|acrocephalosyndactyly, type i|acs i|acs1

Related symptoms:

  • Intellectual disability
  • Hypertelorism
  • Strabismus
  • Sensorineural hearing impairment
  • Cleft palate


SOURCES: ORPHANET MENDELIAN

More info about APERT SYNDROME

High match LACRIMOAURICULODENTODIGITAL SYNDROME; LADD


Lacrimoauriculodentodigital syndrome is a multiple congenital anomaly disorder mainly affecting lacrimal glands and ducts, salivary glands and ducts, ears, teeth, and distal limb segments (summary by Rohmann et al., 2006).

LACRIMOAURICULODENTODIGITAL SYNDROME; LADD Is also known as ladd syndrome|levy-hollister syndrome

Related symptoms:

  • Short stature
  • Hearing impairment
  • Hypertelorism
  • Sensorineural hearing impairment
  • Abnormal facial shape


SOURCES: OMIM MENDELIAN

More info about LACRIMOAURICULODENTODIGITAL SYNDROME; LADD

High match MONOSOMY 9Q22.3


Interstitial 9q22.3 microdeletion is associated with a phenotype including macrocephaly, overgrowth and trigonocephaly. Psychomotor delay, hyperactivity and distinctive facial features were also observed. It has been described in two unrelated children.

MONOSOMY 9Q22.3 Is also known as microdeletion 9q22.3

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Strabismus
  • Muscular hypotonia


SOURCES: ORPHANET MESH MENDELIAN

More info about MONOSOMY 9Q22.3

Top 5 symptoms//phenotypes associated to Downslanted palpebral fissures and Delayed eruption of teeth

Symptoms // Phenotype % cases
Short stature Common - Between 50% and 80% cases
Hypertelorism Uncommon - Between 30% and 50% cases
Strabismus Uncommon - Between 30% and 50% cases
Low-set ears Uncommon - Between 30% and 50% cases
Broad forehead Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Intellectual disability Clinodactyly Long philtrum Clinodactyly of the 5th finger Global developmental delay Abnormal facial shape Hearing impairment Epicanthus Abnormality of the dentition Cleft palate Failure to thrive Short neck Midface retrusion Craniosynostosis Macrocephaly Cataract Micrognathia Toe syndactyly Sensorineural hearing impairment Frontal bossing Joint hyperflexibility Syndactyly Hydrocephalus Conductive hearing impairment Narrow mouth Ptosis Proptosis Abnormality of cardiovascular system morphology Pes planus Hypodontia Hypoplasia of the maxilla Bifid uvula Finger clinodactyly Hyperextensible skin

Rare Symptoms - Less than 30% cases


Blue sclerae Bruising susceptibility Camptodactyly of finger Generalized hypotonia Skeletal dysplasia Kyphosis Osteopenia Muscular hypotonia Microdontia Everted lower lip vermilion Abnormality of the ribs Flat face High forehead Polydactyly Short nose Congestive heart failure Anteverted nares Oral cleft Wide nasal bridge Depressed nasal bridge Mixed hearing impairment Seizures Arnold-Chiari malformation Talipes Finger syndactyly Hydronephrosis Patent ductus arteriosus Malar flattening Ventriculomegaly Growth delay Protruding ear Umbilical hernia Pectus excavatum High palate Abnormality of the metaphysis Bulbous nose Thick vermilion border Short foot Dental crowding Thick eyebrow Abnormality of dental enamel Synophrys Small hand Overgrowth Thin vermilion border Telecanthus Depressed nasal ridge Delayed speech and language development Cognitive impairment Myopia Microphthalmia Dental malocclusion Large fontanelles Accelerated skeletal maturation Trigonocephaly Tall stature Optic atrophy Nephroblastoma Large for gestational age Basal cell carcinoma Hypertension Absent lacrimal punctum Retinopathy Abnormality of the vertebral column Hyperactivity Feeding difficulties Hypoplasia of the lacrimal punctum Absent proximal phalanx of thumb Respiratory insufficiency Agenesis of corpus callosum Mandibular prognathia Feeding difficulties in infancy Facial asymmetry Micromelia Visual impairment Broad foot Abnormal vertebral segmentation and fusion Short palm Symphalangism of the 5th finger Mesoaxial foot polydactyly Distal/middle symphalangism of 5th finger Cryptorchidism Behavioral abnormality Odontogenic keratocysts of the jaw Inguinal hernia Low-set, posteriorly rotated ears Attention deficit hyperactivity disorder Plantar pits Cleft upper lip Thickened ears Ovarian fibroma Calcification of falx cerebri Abnormality of the cervical spine Palmar pits Single transverse palmar crease Metopic synostosis Round face Rhabdomyosarcoma Broad palm Shawl scrotum Megalocornea External ear malformation Choanal atresia Genu recurvatum Medulloblastoma High anterior hairline Convex nasal ridge Absent septum pellucidum Broad thumb Lacrimal gland hypoplasia Preaxial polydactyly Triphalangeal thumb Parasomnia Cupped ear Hypoplastic lacrimal duct Epiphora Hypoplasia of the ulna Absence of Stensen duct Broad hallux Abnormality of digit Keratoconjunctivitis sicca Absent radius Nephrosclerosis Bilateral triphalangeal thumbs Hypoplasia of the radius 2-3 finger syndactyly Duplication of thumb phalanx Xerostomia Bilateral radial aplasia Periorbital fullness Recurrent corneal erosions Nasolacrimal duct obstruction Keratoconjunctivitis Alacrima Small thenar eminence Delayed eruption of primary teeth Flared nostrils Partial duplication of thumb phalanx Dacryocystitis Corneal perforation Abnormality of the outer ear Narrow palate Cervical C5/C6 vertebrae fusion Unilateral radial aplasia Vertebral segmentation defect Conical incisor Ovarian neoplasm Aplasia/Hypoplasia of the thumb Esophageal atresia Corneal erosion Ectopic anus Cloverleaf skull Brachyturricephaly Lacrimal gland aplasia Aplasia of the parotid gland Morphological abnormality of the semicircular canal Acrobrachycephaly Cutaneous syndactyly Radial deviation of the 3rd finger Dilatation Hypospadias Coronal hypospadias Reduced visual acuity Duplication of the distal phalanx of the thumb Abnormality of the pinna Microtia Carious teeth Renal agenesis Split hand Hypoplasia of dental enamel Conjunctivitis Microretrognathia Muscular ventricular septal defect Joint hypermobility No permanent dentition Fifth finger distal phalanx clinodactyly Hyperostosis Long nose Basal ganglia calcification Narrow nose Spinal cord compression Mild global developmental delay Large earlobe Hypoplasia of teeth Cutaneous syndactyly of toes Cranial hyperostosis Broad long bones Persistent pupillary membrane Macrodontia of permanent maxillary central incisor 4-5 finger syndactyly Sparse eyelashes 2-4 toe cutaneous syndactyly Flexion contracture Joint laxity Postnatal growth retardation Platyspondyly Tapered finger Short metacarpal Waddling gait Thin skin Short phalanx of finger Joint contracture of the hand Metaphyseal widening Short femoral neck Abnormality of dental morphology Sparse scalp hair Prominent superficial veins Deep philtrum Ataxia Macrotia Kyphoscoliosis Coarse facial features EEG abnormality Wide mouth Hirsutism Hypertrichosis Gingival overgrowth Low anterior hairline Generalized hirsutism Widely spaced teeth Relative macrocephaly Peritonitis Fine hair Gingival fibromatosis Wide nasal base Thick nasal alae Generalized hypertrichosis Thoracic kyphoscoliosis Congenital, generalized hypertrichosis Delayed skeletal maturation Brachycephaly Deeply set eye Microcornea Triangular face Underdeveloped nasal alae Short palpebral fissure Irregular vertebral endplates Broad femoral neck Mesoaxial hand polydactyly Intellectual disability, mild Thin upper lip vermilion Esotropia Renal dysplasia Nephrocalcinosis Hypercalciuria Patent foramen ovale Severe sensorineural hearing impairment Large forehead Elliptocytosis Broad distal phalanx of finger Mild conductive hearing impairment Cleft hard palate Ventricular septal defect Short philtrum Anemia Highly arched eyebrow Sleep disturbance Broad nasal tip Premature birth Coarctation of aorta Bicuspid aortic valve Coarse hair Hand polydactyly Supernumerary nipple Prominent occiput Short middle phalanx of the 5th finger Persistence of primary teeth Triangular mouth Talipes equinovarus Orbital craniosynostosis Flat capital femoral epiphysis Hydrops fetalis Flattened epiphysis Thenar muscle atrophy Moderately short stature Cigarette-paper scars Absent palmar crease Scoliosis Brachydactyly Intrauterine growth retardation Edema Severe short stature Recurrent fractures Abnormal form of the vertebral bodies Bowing of the long bones Wormian bones Crumpled long bones Increased susceptibility to fractures Abnormality of the voice High pitched voice Pathologic fracture Hyperthyroidism Central hypotonia Turricephaly Shallow orbits Coronal craniosynostosis Communicating hydrocephalus Vertebral compression fractures Severe hydrops fetalis Multiple suture craniosynostosis Cardiac fibroma



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