Downslanted palpebral fissures, and Nail dysplasia

Diseases related with Downslanted palpebral fissures and Nail dysplasia

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

Top matches:

URUGUAY FACIOCARDIOMUSCULOSKELETAL SYNDROME; FCMSU Is also known as faciocardiomusculoskeletal syndrome, uruguay type|fcms

Related symptoms:

  • Scoliosis
  • Low-set ears
  • Downslanted palpebral fissures
  • Cardiomyopathy
  • Congestive heart failure


SOURCES: OMIM MESH MENDELIAN

More info about URUGUAY FACIOCARDIOMUSCULOSKELETAL SYNDROME; FCMSU

Medium match WEAVER SYNDROME

Weaver syndrome (WVS) is a rare, multisystem disorder characterized by tall stature, a typical facial appearance (hypertelorism, retrognathia) and variable intellectual disability. Additional features may include camptodactyly, soft doughy skin, umbilical hernia, and a low hoarse cry.

WEAVER SYNDROME Is also known as camptodactyly-overgrowth-unusual facies syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Scoliosis
  • Hypertelorism
  • Micrognathia


SOURCES: ORPHANET MENDELIAN

More info about WEAVER 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

Other less relevant matches:

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about ROSSELLI-GULIENETTI SYNDROME

Short-rib thoracic dysplasia (SRTD) with or without polydactyly refers to a group of autosomal recessive skeletal ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. SRTD encompasses Ellis-van Creveld syndrome (EVC) and the disorders previously designated as Jeune syndrome or asphyxiating thoracic dystrophy (ATD), short rib-polydactyly syndrome (SRPS), and Mainzer-Saldino syndrome (MZSDS). Polydactyly is variably present, and there is phenotypic overlap in the various forms of SRTDs, which differ by visceral malformation and metaphyseal appearance. Nonskeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of SRTD are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life (summary by Huber and Cormier-Daire, 2012 and Schmidts et al., 2013). There is phenotypic overlap with the cranioectodermal dysplasias (Sensenbrenner syndrome; see CED1, {218330}).SRTD15 is characterized by narrow thorax, oral and cardiovascular anomalies, short long bones, and postaxial polydactyly, in addition to other congenital anomalies. Considerable variability in features and in severity has been reported, with some affected individuals succumbing shortly after birth and others living to adulthood, even within the same family.For a discussion of genetic heterogeneity of short-rib thoracic dysplasia with or without polydactyly, see SRTD1 (OMIM ).

Related symptoms:

  • Short stature
  • Scoliosis
  • Abnormal facial shape
  • Low-set ears
  • Depressed nasal bridge


SOURCES: OMIM MENDELIAN

More info about SHORT-RIB THORACIC DYSPLASIA 15 WITH POLYDACTYLY; SRTD15

Medium match TMEM165-CDG

TMEM165-CDG is a form of congenital disorders of N-linked glycosylation characterized by a psychomotor delay-dysmorphism (pectus carinatum, dorsolumbar kyphosis and severe sinistroconvex scoliosis, short distal phalanges, genua vara, pedes planovalgi syndrome) with postnatal growth deficiency and major spondylo-, epi-, and metaphyseal skeletal involvement. Additional features include facial dysmorphism (midface hypoplasia, internal strabism of the right eye, low-set ears, moderately high arched palate, small teeth), nephrotic syndrome, cardiac defects, and feeding problems. The disease is caused by mutations in the gene TMEM165 (4q12).

TMEM165-CDG Is also known as congenital disorder of glycosylation type 2k|cdg iik|cdg2k|congenital disorder of glycosylation type iik|cdg-iik|cdgiik|cdg syndrome type iik|carbohydrate deficient glycoprotein syndrome type iik

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Microcephaly


SOURCES: OMIM ORPHANET MENDELIAN

More info about TMEM165-CDG

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

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

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

X-linked syndromic mental retardation-33 is an X-linked recessive neurodevelopmental disorder characterized by delayed psychomotor development, intellectual disability, and characteristic facial features (summary by O'Rawe et al., 2015).

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about X-LINKED INTELLECTUAL DISABILITY-GLOBAL DEVELOPMENT DELAY-FACIAL DYSMORPHISM-SACRAL CAUDAL REMNANT SYNDROME

Top 5 symptoms//phenotypes associated to Downslanted palpebral fissures and Nail dysplasia

Symptoms // Phenotype % cases
Scoliosis Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Micrognathia Common - Between 50% and 80% cases
Low-set ears Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Seizures Short stature Malar flattening Midface retrusion Macrocephaly Hypertelorism Finger syndactyly Wide nasal bridge Syndactyly Protruding ear Hypodontia Long philtrum Anodontia Depressed nasal bridge Synophrys Hearing impairment Retrognathia Macrotia Oral cleft High palate Pectus excavatum Short palm Frontal bossing Cleft palate Epicanthus Severe short stature Brachydactyly Strabismus Cleft upper lip Growth delay Highly arched eyebrow Sparse and thin eyebrow Cleft lip Skeletal dysplasia Sparse hair Nail dystrophy Toe syndactyly Microcephaly Sacral dimple Cryptorchidism Prominent supraorbital ridges Hip dislocation Posteriorly rotated ears

Rare Symptoms - Less than 30% cases

Hepatosplenomegaly Abnormality of dental morphology Congenital hip dislocation Bilateral cleft lip and palate Abnormality of the ureter Cutaneous finger syndactyly Abnormality of the ear Toenail dysplasia Palmoplantar hyperkeratosis Bifid tongue Sparse lateral eyebrow Scrotal hypoplasia Sparse eyelashes Abnormality of dental enamel Hypohidrosis Microdontia Wide intermamillary distance Elevated serum creatine phosphokinase Ectodermal dysplasia Dystrophic toenail Pili torti Dystrophic fingernails Anteverted nares High, narrow palate Hip dysplasia Prominent forehead Increased number of teeth Metaphyseal dysplasia Generalized hypotonia Wide nose Short neck Small nail Kyphosis Ptosis Abnormality of the skeletal system Elevated hepatic transaminase Hepatomegaly Abnormal facial shape Pes cavus Progressive hypotrichosis Abnormality of the philtrum Cutaneous syndactyly of toes Delayed speech and language development Bilateral single transverse palmar creases Carious teeth Inguinal hernia Camptodactyly of finger Broad forehead Hypoplasia of penis Short nose Broad thumb Hoarse voice Clinodactyly of the 5th finger Sandal gap Coxa valga Oligodontia Alopecia Recurrent respiratory infections Proptosis Hypogonadism EEG abnormality Elbow dislocation Hyperlordosis Neurological speech impairment Synostosis of carpal bones Accessory carpal bones Abnormality of the tarsal bones Thoracic hypoplasia Limited knee flexion Thick skull base Clinodactyly Bulbous tips of toes Lateral femoral bowing Long second metacarpal Cardiomyopathy Prominent occiput Abnormality of the fifth metatarsal bone Broad distal phalanx of the thumb Intellectual disability, mild Unicornuate uterus Pancreatic aplasia Limited elbow extension Dislocated radial head Hypospadias Pica Ureteral atresia Aplasia of the vagina Hypoplasia of the bladder Upslanted palpebral fissure Bipartite calcaneus Broad hallux Capitate-hamate fusion Omphalocele Umbilical hernia Abnormality of the genitourinary system Abnormality of the metacarpal bones Proximal placement of thumb Finger clinodactyly Short hallux Broad face Delayed closure of the anterior fontanelle Increased bone mineral density Short thumb Bowing of the long bones Limitation of joint mobility Short 4th metacarpal Bifid uvula Short distal phalanx of finger Flat face Conductive hearing impairment Short 5th metacarpal Thickened calvaria Absent frontal sinuses Hypoplastic frontal sinuses Abnormal vertebral segmentation and fusion Narrow mouth Multiple impacted teeth Short 3rd metacarpal Selective tooth agenesis Abnormality of cardiovascular system morphology Pectus carinatum Long face Pointed chin Cerebellar vermis hypoplasia Eczema Broad nasal tip Hirsutism Bulbous nose Joint hypermobility Abnormality of eye movement Reduced tendon reflexes Attention deficit hyperactivity disorder Autistic behavior Postnatal growth retardation Anxiety Deeply set eye Thin upper lip vermilion Osteopenia Microretrognathia Delayed gross motor development Cerebellar hypoplasia Short digit Talipes cavus equinovarus Prominent protruding coccyx Broad chin Thickened ears Prominent coccyx Caesarian section Sleep-wake cycle disturbance Nasolacrimal duct obstruction Chronic otitis media Thickened helices Gait imbalance Depressed nasal tip Aplasia cutis congenita Spastic diplegia Flat occiput Oral-pharyngeal dysphagia Gastroesophageal reflux Constipation Short philtrum Coxa vara Ureterocele Femoral hernia Avascular necrosis of the capital femoral epiphysis Hypoplastic labia majora Capillary hemangioma Long palpebral fissure Open bite Hemivertebrae Epispadias Gingival overgrowth Long eyelashes Abnormal form of the vertebral bodies Blue sclerae Specific learning disability Downturned corners of mouth Micromelia Fingernail dysplasia Median cleft lip and palate Dystonia Nystagmus Cerebellar atrophy Hypoplasia of the corpus callosum Ventriculomegaly Dysphagia Tremor Intrauterine growth retardation Myopia Ataxia Clitoral hypoplasia Onychogryposis of fingernail Naevus flammeus of the eyelid Euryblepharon Abnormality of the penis Ridged fingernail Curly eyelashes Hypoplastic labia minora Abnormality of the gingiva Abnormality of upper lip Hypermetropia Hyperconvex nail Hypoplasia of the zygomatic bone Joint contracture of the hand Anteverted ears Anhidrosis Scaling skin Pterygium Hypotrichosis Bilateral cleft lip Ventricular hypertrophy Aplasia/Hypoplasia of the eyebrow Brittle hair Abnormal dermatoglyphics Sparse scalp hair Abnormality of the voice Triangular face Mitral regurgitation Prominent nose Hallux valgus Limb undergrowth Cone-shaped epiphysis Cutaneous syndactyly Horseshoe kidney Short ribs Coarctation of aorta Postaxial hand polydactyly Postaxial polydactyly Respiratory insufficiency Narrow chest Everted lower lip vermilion Polyhydramnios Polydactyly Patent ductus arteriosus Splenomegaly Respiratory distress Skeletal muscle hypertrophy Broad palm Atrioventricular canal defect Fine hair Redundant skin Deep philtrum Accelerated skeletal maturation Abnormality of the fingernails Tall stature Abnormality of the metaphysis Round face Hypoplastic toenails Joint hyperflexibility Talipes equinovarus Joint stiffness Feeding difficulties in infancy Low-set, posteriorly rotated ears Hypertonia Large hands Broad foot Eclabion Hyperhidrosis Limited elbow movement Brachyturricephaly Hyperplasia of the maxilla Camptodactyly of toe Abnormality of the kidney Progressive pes cavus Broad nail Thin nail Marked muscular hypertrophy Pugilistic facies Abnormality of the dentition Dislocation of toes Spasticity Abnormally low-pitched voice Deep-set nails Mesomelia Hamartoma Subcortical cerebral atrophy Facial asymmetry Renal hypoplasia Bilateral sensorineural hearing impairment Oligohydramnios Short foot Congestive heart failure Stage 5 chronic kidney disease Hydronephrosis Recurrent urinary tract infections High forehead Mandibular prognathia Autism Diabetes mellitus Cerebral atrophy Renal insufficiency Hypertrichosis Large fontanelles Feeding difficulties Upper limb undergrowth Urethral stenosis Hyperechogenic kidneys Long toe Aplasia of the uterus Maturity-onset diabetes of the young Ovarian cyst Shawl scrotum Horizontal nystagmus Long fingers Unilateral renal agenesis Language impairment Focal impaired awareness seizure Schizophrenia Renal hypoplasia/aplasia Multicystic kidney dysplasia Behavioral abnormality Unexplained fevers Spinal canal stenosis Hydrometrocolpos Difficulty walking Muscle weakness Hypertrophic cardiomyopathy Failure to thrive Partial atrioventricular canal defect Hypoplasia of the epiglottis Bilateral postaxial polydactyly Thrombocytopenia Accessory oral frenulum Horizontal ribs Complete atrioventricular canal defect Vaginal atresia Thoracic dysplasia Median cleft lip Short clavicles Fever Osteoporosis Diaphyseal dysplasia Epiphyseal dysplasia Anterior pituitary hypoplasia Beaking of vertebral bodies Premature skin wrinkling Broad neck Amelogenesis imperfecta Protruding tongue Shock Kyphoscoliosis Rhizomelia Postnatal microcephaly Depressed nasal ridge Waddling gait Growth hormone deficiency Abnormality of the cerebral white matter Joint laxity Abnormality of the septum pellucidum


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