Downslanted palpebral fissures, and Small nail

Diseases related with Downslanted palpebral fissures and Small nail

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

Top matches:

CRANIOFACIAL DYSPLASIA-SHORT STATURE-ECTODERMAL ANOMALIES-INTELLECTUAL DISABILITY SYNDROME Is also known as developmental delay-short stature-dysmorphic features-sparse hair syndrome|loucks-innes syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hypertelorism
  • Micrognathia


SOURCES: OMIM ORPHANET MENDELIAN

More info about CRANIOFACIAL DYSPLASIA-SHORT STATURE-ECTODERMAL ANOMALIES-INTELLECTUAL DISABILITY SYNDROME

Brachydactyly-short stature-retinitis pigmentosa syndrome is a rare, genetic, congenital limb malformation syndrome characterized by mild to severe short stature, brachydactyly, and retinal degeneration (usually retinitis pigmentosa), associated with variable intellectual disability, develomental delays, and craniofacial anomalies.

BRACHYDACTYLY-SHORT STATURE-RETINITIS PIGMENTOSA SYNDROME Is also known as metaphyseal chondrodysplasia with retinitis pigmentosa

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Micrognathia
  • Low-set ears


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about BRACHYDACTYLY-SHORT STATURE-RETINITIS PIGMENTOSA SYNDROME

High 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

Other less relevant matches:

Temple-Baraitser syndrome is a rare developmental anomalies syndrome characterized by severe intellectual disability and distal hypoplasia of digits, particularly of thumbs and halluces, with nail aplasia or hypoplasia. Facial dysmorphism with a pseudo-myopathic appearance has been reported, which may include high anterior hairline or low frontal hairline with central cowlick, flat forehead, ptosis, hypertelorism, downslanting palpebral fissures, epicanthal folds, ears with thick helices, broad depressed nasal bridge with anteverted nares, short columella, long philtrum, high-arched palate, broad mouth with thick vermilion border of the upper or the lower lip and downturned corners. Marked hypotonia, seizures and global developmental delay have been reported, associated with autistic spectrum disorder manifestations in some patients.

TEMPLE-BARAITSER SYNDROME Is also known as severe intellectual disability-aplasia/hypoplasia of thumb and hallux syndrome|mental retardation, severe, and absent nails of hallux and pollex|tmbts

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about TEMPLE-BARAITSER 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

HYPERFERRITINEMIA WITH OR WITHOUT CATARACT; HRFTC Is also known as hyperferritinemia-cataract syndrome|hyperferritinemia, hereditary, with congenital cataracts|hhcs

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about HYPERFERRITINEMIA WITH OR WITHOUT CATARACT; HRFTC

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

Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome is a rare, genetic multiple congenital anomalies/dysmorphic syndrome characterized by global developmental delay, axial hypotonia, palate abnormalities (including cleft palate and/or high and narrow palate), dysmorphic facial features (including prominent forehead, hypertelorism, downslanting palpebral fissures, wide nasal bridge, thin lips and widely spaced teeth), and short stature. Additional manifestations may include digital anomalies (such as brachydactyly, clinodactyly, and hypoplastic toenails), a single palmar crease, lower limb hypertonia, joint hypermobility, as well as ocular and urogenital anomalies.

PALATAL ANOMALIES-WIDELY SPACED TEETH-FACIAL DYSMORPHISM-DEVELOPMENTAL DELAY SYNDROME Is also known as palatal anomalies-multiple diastemata-facial dysmorphism-developmental delay syndrome

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about PALATAL ANOMALIES-WIDELY SPACED TEETH-FACIAL DYSMORPHISM-DEVELOPMENTAL DELAY SYNDROME

Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome, also known as Beare-Stevenson syndrome (BSS), is a severe form of syndromic craniosynostosis, characterized by a variable degree of craniosynostosis, with cloverleaf skull reported in over 50% of cases, cutis gyrata, corduroy-like linear striations in the skin, acanthosis nigricans, skin tags, and choanal stenosis or atresia). Additional features include facial features similar to Crouzon disease, ear defects (conductive hearing loss, posteriorly angulated ears, stenotic auditory canals, preauricular furrows, and narrow ear canals), hirsutism, a prominent umbilical stump, and genitorurinary anomalies (anteriorly placed anus, hypoplasic labia, hypospadias). BSS is associated with a poor outcome as patients present an elevated risk for sudden death in their first year of life. Significant developmental delay and intellectual disability are observed in most patients who survive infancy.

CUTIS GYRATA-ACANTHOSIS NIGRICANS-CRANIOSYNOSTOSIS SYNDROME Is also known as beare-stevenson syndrome|cutis gyrata syndrome of beare and stevenson|beare-stevenson cutis gyrata syndrome

Related symptoms:

  • Global developmental delay
  • Hypertelorism
  • Strabismus
  • Cleft palate
  • Cryptorchidism


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about CUTIS GYRATA-ACANTHOSIS NIGRICANS-CRANIOSYNOSTOSIS 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

Top 5 symptoms//phenotypes associated to Downslanted palpebral fissures and Small nail

Symptoms // Phenotype % cases
Hypertelorism Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Hypoplastic toenails Common - Between 50% and 80% cases
Depressed nasal bridge Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases

Other less frequent symptoms

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

Common Symptoms - More than 50% cases

Short stature

Uncommon Symptoms - Between 30% and 50% cases

Micrognathia Low-set ears Anteverted nares Malar flattening Short neck Brachydactyly Cryptorchidism Macrotia Frontal bossing Macrocephaly Long philtrum Craniosynostosis Wide nasal bridge Strabismus Cleft palate Epicanthus Clinodactyly of the 5th finger Scoliosis Low-set, posteriorly rotated ears Delayed speech and language development Hearing impairment Midface retrusion Ptosis Respiratory distress Limb undergrowth

Rare Symptoms - Less than 30% cases

Generalized hypotonia Seizures Respiratory insufficiency Broad foot Abnormal facial shape High palate Redundant skin Syndactyly Tapered finger Downturned corners of mouth Skeletal dysplasia Narrow chest Short thumb High myopia Short ribs Rhizomelia Hearing abnormality Proptosis Narrow mouth Patent foramen ovale Chordee Cloverleaf skull Hypoplastic scapulae Reduced number of teeth Plagiocephaly Abnormal form of the vertebral bodies Spinal canal stenosis Choanal atresia Short foot Short palm Platyspondyly Severe short stature Hypospadias Short nose Broad thumb Cataract Abnormality of the fingernails Myopia Abnormality of the metaphysis Camptodactyly of finger Short distal phalanx of finger Short metacarpal Hypertonia Hypoplasia of penis Horseshoe kidney Round face Prominent forehead Feeding difficulties Ventricular septal defect Joint stiffness Abnormality of cardiovascular system morphology Inguinal hernia Delayed CNS myelination Central hypotonia Supernumerary nipple Syringomyelia Narrow nasal bridge Bilateral ptosis Widely spaced teeth Oculomotor apraxia Tethered cord Hypertension Lower limb hypertonia Umbilical hernia Epidermal acanthosis Overgrowth Palmoplantar keratoderma Dolichocephaly Prominent nasal bridge Abnormality of the eye Abnormality of the dentition Narrow nasal tip Agenesis of corpus callosum Hydrocephalus Ventriculomegaly Optic atrophy Clonus Cerebral white matter hypoplasia Finger clinodactyly Delayed myelination Abnormal vertebral morphology Pseudoarthrosis Broad palm Shallow orbits Abnormality of the clavicle Sparse hair Spondyloepimetaphyseal dysplasia Abnormality of the kidney Nasal obstruction Proteinuria Renal phosphate wasting Abnormality of the nasopharynx Abnormal bone ossification Broad phalanx Broad metatarsal Broad metacarpals Unerupted tooth Exotropia Multiple unerupted teeth Motor delay Hypoplasia of the corpus callosum Clinodactyly Constipation Cerebellar hypoplasia Brachycephaly Thin upper lip vermilion Synophrys Joint hypermobility Highly arched eyebrow Apraxia Blue sclerae Hypertrichosis Abnormality of the face Acanthosis nigricans Subcutaneous nodule Bifid tongue Small hand Abnormality of the ribs Omphalocele Wide anterior fontanel Hydrops fetalis Joint contracture of the hand Short long bone Thoracic hypoplasia Thin ribs Fibular hypoplasia Protuberant abdomen Megalocornea Bell-shaped thorax Hypoplastic fingernail Broad ribs Micromelia Metaphyseal cupping Abnormal diaphysis morphology Hypoplastic ischia Long clavicles Anterior rib cupping Broad long bones Narrow greater sacrosciatic notches Thin clavicles Posterior rib cupping Dumbbell-shaped long bone Broad ischia Pear-shaped vertebrae Widely patent coronal suture Posterior vertebral hypoplasia Flat face Pectus carinatum Gingival overgrowth Skin tags Abnormality of the nail Narrow palate Failure to thrive in infancy Arnold-Chiari malformation Abnormality of vision Melanocytic nevus Bifid scrotum Limited elbow extension Natal tooth Anteriorly placed anus Underdeveloped supraorbital ridges Turricephaly Cognitive impairment Abnormality of the skull Hypoplasia of the zygomatic bone Abnormality of the pinna Craniofacial dysostosis Camptodactyly Preauricular skin furrow Palmoplantar cutis gyrata Prominent scrotal raphe Prominent umbilicus Palmoplantar cutis laxa Visceral angiomatosis Choanal stenosis Oxycephaly Thickened helices Redundant neck skin Aplasia/Hypoplasia of the earlobes Abnormality of the pancreas Breech presentation Hypophosphatemia Dandy-Walker malformation Increased susceptibility to fractures Hypoplastic thumbnail Global brain atrophy Poor eye contact Short columella Low hanging columella High anterior hairline Thick nasal alae Small thenar eminence Frontal upsweep of hair Pseudoepiphyses Flat forehead Tented philtrum Pseudoepiphysis of the thumb Absent nail of hallux Hepatomegaly Broad hallux Talipes equinovarus Spasticity Splenomegaly Metaphyseal chondrodysplasia Patent ductus arteriosus Polydactyly Polyhydramnios Congenital blindness Hepatosplenomegaly Cleft lip Oral cleft Cleft upper lip Postaxial polydactyly Hypodontia Anonychia Myopathic facies Underdeveloped nasal alae Retrognathia Hoarse voice Fine hair Accelerated skeletal maturation Sandal gap Deep philtrum Large hands Thin nail Deep-set nails Abnormally low-pitched voice Joint hyperflexibility Finger syndactyly Broad forehead Muscular hypotonia Feeding difficulties in infancy Pes cavus Adducted thumb Intellectual disability, severe Cerebral atrophy Absent speech Neonatal hypotonia Wide mouth Generalized tonic-clonic seizures Wide nose Thick vermilion border Full cheeks Prominent nose Wide intermamillary distance Open mouth Low anterior hairline Intellectual disability, progressive Nail dysplasia Postaxial hand polydactyly Short metatarsal Depressivity Bilateral single transverse palmar creases Polycystic ovaries Non-midline cleft lip Microcytic anemia Iron deficiency anemia Increased serum ferritin Abnormality of the elbow Ectopic anus Nuclear cataract Pulverulent cataract Failure to thrive Posterior fossa cyst Tubulointerstitial nephritis Delayed skeletal maturation Convex nasal ridge Scaphocephaly Mandibular prognathia Protruding ear Nephritis Sparse eyebrow Trigonocephaly Sparse eyelashes Cerebellar vermis hypoplasia Bowing of the long bones Short phalanx of finger Tall stature Ectodermal dysplasia Disproportionate short-limb short stature Hematuria Blindness Webbed neck Coarctation of aorta Accessory oral frenulum Cutaneous syndactyly Cone-shaped epiphysis Mesomelia Atrioventricular canal defect Metaphyseal dysplasia Hamartoma Increased number of teeth Renal cyst Short clavicles Median cleft lip Thoracic dysplasia Vaginal atresia Complete atrioventricular canal defect Horizontal ribs Bilateral postaxial polydactyly Anal atresia Hydrometrocolpos Hypoplasia of the epiglottis Partial atrioventricular canal defect Microcephaly Retinal degeneration Nyctalopia Anemia Visual impairment Intellectual disability, moderate Intrauterine growth retardation Rod-cone dystrophy Photophobia Severe global developmental delay Congenital cataract Widely patent sagittal suture


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