Downslanted palpebral fissures, and Short palm

Diseases related with Downslanted palpebral fissures and Short palm

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

Top matches:

Otopalatodigital syndrome type 1 (OPD1) is the mildest form of otopalatodigital syndrome spectrum disorder, and is characterized by a generalized skeletal dysplasia, mild intellectual disability, conductive hearing loss, and typical facial anomalies.

OTOPALATODIGITAL SYNDROME TYPE 1 Is also known as opd syndrome 1|opd i syndrome|taybi syndrome

Related symptoms:

  • Hearing impairment
  • Hypertelorism
  • Cleft palate
  • Depressed nasal bridge
  • Wide nasal bridge


SOURCES: ORPHANET MENDELIAN

More info about OTOPALATODIGITAL SYNDROME TYPE 1

Congenital symmetric circumferential skin creases is characterized by the folding of excess skin, which leads to ringed creases, primarily of the limbs. Affected individuals also exhibit intellectual disability, cleft palate, and dysmorphic features (summary by Isrie et al., 2015).For a discussion of genetic heterogeneity of congenital symmetric circumferential skin creases, see CSCSC1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about SKIN CREASES, CONGENITAL SYMMETRIC CIRCUMFERENTIAL, 2; CSCSC2

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

Other less relevant matches:

Osteoglophonic dwarfism (OGD) is characterized by dwarfism, severe craniofacial abnormalities and multiple unerupted teeth.

OSTEOGLOSPHONIC DYSPLASIA Is also known as osteoglophonic dwarfism

Related symptoms:

  • Intellectual disability
  • Scoliosis
  • Hypertelorism
  • Failure to thrive
  • Micrognathia


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about OSTEOGLOSPHONIC DYSPLASIA

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

Fibrochondrogenesis is a rare, neonatally lethal, rhizomelic chondrodysplasia. Eleven cases have been reported. The face is distinctive and characterized by protuberant eyes, flat midface, flat small nose with anteverted nares and a small mouth with long upper lip. Cleft palate, micrognathia and bifid tongue can occur. The limbs show marked shortness of all segments with relatively normal hands and feet. No internal anomalies other than omphalocele have been reported. Transmission is probably autosomal recessive. Recurrence in a consanguineous family (affecting both sexes) and concordance of affected male twins have been reported.

Related symptoms:

  • Short stature
  • Hearing impairment
  • Hypertelorism
  • Micrognathia
  • Cleft palate


SOURCES: OMIM ORPHANET MENDELIAN

More info about FIBROCHONDROGENESIS

Aarskog-Scott syndrome, also known as faciogenital dysplasia, is an X-linked disorder characterized by short stature, hypertelorism, shawl scrotum, and brachydactyly, although there is wide phenotypic variability and other features, such as joint hyperextensibility, short nose, widow's peak, and inguinal hernia, may also occur. Most patients do not have mental retardation, but some may have neurobehavioral features. Carrier females may present with subtle features, such as widow's peak or short stature (summary by Orrico et al., 2010).

AARSKOG-SCOTT SYNDROME; AAS Is also known as aarskog syndrome, x-linked|faciodigitogenital syndrome|fgdy|faciogenital dysplasia

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about AARSKOG-SCOTT SYNDROME; AAS

High match MUENKE SYNDROME

Muenke syndrome is a syndromic craniosynostosis with significant phenotypic variability, usually characterized by coronal synostosis, midfacial retrusion, strabismus, hearing loss and developmental delay.

MUENKE SYNDROME Is also known as muenke nonsyndromic coronal craniosynostosis

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about MUENKE SYNDROME

Autosomal dominant Robinow syndrome (DRS) is the more common type of Robinow syndrome (RS, see this term) characterized by mild to moderate limb shortening and abnormalities of the head, face and external genitalia.

Related symptoms:

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


SOURCES: ORPHANET MENDELIAN

More info about AUTOSOMAL DOMINANT ROBINOW SYNDROME

Otopalatodigital syndrome-1 is 1 of 4 otopalatodigital syndromes caused by mutations in the FLNA gene. The disorders, which include frontometaphyseal dysplasia (FMD1 ), otopalatodigital syndrome-2 (OPD2 ), and Melnick-Needles syndrome (MNS ), constitute a phenotypic spectrum. At the mild end of the spectrum, males with OPD1 have cleft palate and mild skeletal anomalies with conductive deafness caused by ossicular anomalies. FMD is characterized by a generalized skeletal dysplasia, deafness and urogenital defects. Males with OPD2 have disabling skeletal anomalies in addition to variable malformations in the hindbrain, heart, intestines, and kidneys that frequently lead to perinatal death. The most severe phenotype, MNS, is characterized by a skeletal dysplasia in the heterozygote. Affected males exhibit severe malformations similar to those observed in individuals with OPD2, resulting in prenatal lethality or death in the first few months of life (review by Robertson, 2005). Verloes et al. (2000) suggested that these disorders constitute a single entity, which they termed 'frontootopalatodigital osteodysplasia.'

OTOPALATODIGITAL SYNDROME, TYPE I; OPD1 Is also known as opd syndrome 1|opd i syndrome

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about OTOPALATODIGITAL SYNDROME, TYPE I; OPD1

Top 5 symptoms//phenotypes associated to Downslanted palpebral fissures and Short palm

Symptoms // Phenotype % cases
Hypertelorism Very Common - Between 80% and 100% cases
Hearing impairment Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Anteverted nares Common - Between 50% and 80% cases

Other less frequent symptoms

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

Common Symptoms - More than 50% cases

Frontal bossing

Uncommon Symptoms - Between 30% and 50% cases

Short neck

Common Symptoms - More than 50% cases

Low-set ears

Uncommon Symptoms - Between 30% and 50% cases

Cryptorchidism

Common Symptoms - More than 50% cases

Micrognathia

Uncommon Symptoms - Between 30% and 50% cases

Midface retrusion

Common Symptoms - More than 50% cases

Short foot

Uncommon Symptoms - Between 30% and 50% cases

Depressed nasal bridge

Common Symptoms - More than 50% cases

Cleft palate

Uncommon Symptoms - Between 30% and 50% cases

Wide nasal bridge Global developmental delay Brachydactyly Short nose Malar flattening Pectus excavatum Scoliosis Epicanthus Clinodactyly of the 5th finger Severe short stature Ptosis Inguinal hernia Long philtrum Syndactyly Seizures Strabismus Bifid tongue Proptosis Oligodontia Flat face Elbow dislocation High palate Broad foot Pes planus Narrow mouth Behavioral abnormality Round face Broad palm Intellectual disability, mild Abnormal vertebral segmentation and fusion Camptodactyly of finger Bowing of the long bones Anodontia Umbilical hernia Plagiocephaly Skeletal dysplasia Delayed speech and language development Abnormal form of the vertebral bodies Shawl scrotum Clinodactyly Hypospadias

Rare Symptoms - Less than 30% cases

Nail dystrophy Genu recurvatum Single transverse palmar crease Hypoplasia of the maxilla Hip dislocation Megalocornea Coxa valga Retrognathia Macrocephaly Prominent forehead Hypoplastic toenails Respiratory insufficiency Abnormality of the skeletal system Thoracic hypoplasia Omphalocele Camptodactyly Pectus carinatum Failure to thrive Rhizomelia Hypermetropia Limb undergrowth Platyspondyly Hypoplastic scapulae Protruding ear Mandibular prognathia Depressivity Craniosynostosis High, narrow palate Small hand Abnormality of the pinna Proximal placement of thumb Hypertension Hypodontia Ventricular septal defect Thickened calvaria Synostosis of carpal bones Low-set, posteriorly rotated ears Abnormality of the metacarpal bones Short hallux Upslanted palpebral fissure Hypoplastic frontal sinuses Posteriorly rotated ears Abnormality of the tarsal bones Hypoplasia of the corpus callosum Prominent supraorbital ridges Increased intracranial pressure Microcephaly Attention deficit hyperactivity disorder Cleft upper lip Short distal phalanx of finger Limitation of joint mobility Finger syndactyly Broad forehead Short thumb Increased bone mineral density Radial deviation of finger Bilateral sensorineural hearing impairment Micromelia Cognitive impairment Ureterocele Capitate-hamate fusion Sandal gap Broad hallux Alopecia Esophageal atresia Coronal craniosynostosis Dental malocclusion Febrile seizures Epidermal acanthosis Carpal synostosis Hypopigmented skin patches Bradycardia Hypopigmentation of hair Tarsal synostosis Hypermelanotic macule Low anterior hairline Tracheoesophageal fistula Acanthosis nigricans Cone-shaped epiphysis Trigonocephaly Short middle phalanx of finger Broad philtrum Hypopigmentation of the skin Upper airway obstruction Cirrhosis Joint hypermobility Polymicrogyria Generalized-onset seizure Abnormality of the genital system Lymphedema Mild short stature Interstitial pulmonary abnormality Macrocytic anemia Hypoplasia of the odontoid process Short 5th finger Widow's peak Large earlobe Volvulus Hyperextensibility of the finger joints Abnormal cardiac septum morphology Osteochondritis Dissecans Frontoparietal polymicrogyria Prominent umbilicus Increased upper to lower segment ratio Curved linear dimple below the lower lip Cervical spine hypermobility Sensorineural hearing impairment Hyperreflexia Dysphagia Hydrocephalus Brachycephaly Anxiety Apnea Autistic behavior Cone-shaped epiphyses of the phalanges of the hand Ridged fingernail Aqueductal stenosis Toe syndactyly Abnormality of the genitourinary system Finger clinodactyly Congenital hip dislocation Broad thumb Nail dysplasia Bifid uvula Conductive hearing impairment Limited elbow extension Growth delay Onychogryposis of fingernail Naevus flammeus of the eyelid Euryblepharon Abnormality of the penis Pulmonic stenosis Prominent occiput Dislocated radial head Hypoplastic labia minora Bipartite calcaneus Long second metacarpal Lateral femoral bowing Bulbous tips of toes Thick skull base Limited knee flexion Accessory carpal bones Broad distal phalanx of the thumb Short 4th metacarpal Short 3rd metacarpal Multiple impacted teeth Absent frontal sinuses Selective tooth agenesis Short 5th metacarpal Delayed closure of the anterior fontanelle Broad face Curly eyelashes Abnormality of the gingiva Oxycephaly Short middle phalanx of toe Downturned corners of mouth Wide nose Short philtrum Thimble-shaped middle phalanges of hand Low-frequency sensorineural hearing impairment Unicoronal synostosis Bicoronal synostosis Specific learning disability Synostosis of carpals/tarsals Hemimegalencephaly Craniofacial asymmetry Parietal foramina Lambdoidal craniosynostosis Abnormality of the head Anterior plagiocephaly Hip dysplasia Hypoplasia of penis Clitoral hypoplasia Capillary hemangioma Median cleft lip and palate Epispadias Fingernail dysplasia Femoral hernia Avascular necrosis of the capital femoral epiphysis Hypoplastic labia majora Increased number of teeth Blue sclerae Long palpebral fissure Open bite Sacral dimple Coxa vara Hemivertebrae Gingival overgrowth Long eyelashes Delayed puberty Myopia Joint laxity Broad metacarpals Increased susceptibility to fractures Failure to thrive in infancy Hypophosphatemia Shallow orbits Abnormality of the clavicle Spondyloepimetaphyseal dysplasia Cloverleaf skull Nasal obstruction Chordee Renal phosphate wasting Abnormality of the nasopharynx Abnormal bone ossification Broad phalanx Broad metatarsal Pseudoarthrosis Reduced number of teeth Elevated hepatic transaminase Renal hypoplasia Oligohydramnios Highly arched eyebrow Stage 5 chronic kidney disease Facial asymmetry Hydronephrosis High forehead Unerupted tooth Autism Diabetes mellitus Cerebral atrophy Renal insufficiency Feeding difficulties Multiple unerupted teeth Short metatarsal Disproportionate short-limb short stature Hypertrichosis Broad neck Generalized hypotonia Motor delay Microphthalmia Osteopenia Blepharophimosis Microtia Carious teeth Tapered finger Microcornea Wide intermamillary distance Microdontia Short palpebral fissure Scrotal hypoplasia Overfolded helix Congestive heart failure Short phalanx of finger External ear malformation Choanal atresia Short metacarpal Delayed skeletal maturation Respiratory distress Abnormality of the cervical spine High anterior hairline Hyperextensible skin Abnormality of the dentition Delayed eruption of teeth Everted lower lip vermilion Oral cleft Talipes Joint hyperflexibility Abnormality of cardiovascular system morphology Small nail Recurrent urinary tract infections Abdominal pain Narrow greater sacrosciatic notches Patent foramen ovale Thin ribs Fibular hypoplasia Protuberant abdomen Bell-shaped thorax Hearing abnormality Hypoplastic fingernail Broad ribs Metaphyseal cupping Abnormal diaphysis morphology Hypoplastic ischia Long clavicles Anterior rib cupping Broad long bones Thin clavicles Short ribs Anemia Hyperactivity Abnormal heart morphology Obesity Hernia Hepatomegaly Flexion contracture Pain Posterior rib cupping Widely patent sagittal suture Posterior vertebral hypoplasia Widely patent coronal suture Pear-shaped vertebrae Broad ischia Dumbbell-shaped long bone Short long bone Joint contracture of the hand Large fontanelles Hyperechogenic kidneys Sparse and thin eyebrow Horizontal nystagmus Multicystic kidney dysplasia Renal hypoplasia/aplasia Schizophrenia Focal impaired awareness seizure Language impairment Unilateral renal agenesis Long fingers Upper limb undergrowth Ovarian cyst Maturity-onset diabetes of the young Aplasia of the uterus Long toe Urethral stenosis Hydrops fetalis Unicornuate uterus Wide anterior fontanel Abnormality of the metaphysis Abnormality of the ribs High myopia Narrow chest Cataract Pancreatic aplasia Subcortical cerebral atrophy Pica Ureteral atresia Aplasia of the vagina Hypoplasia of the bladder Abnormality of upper lip Hyperconvex nail Abnormality of the fifth metatarsal bone


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