Downslanted palpebral fissures, and Syndactyly

Diseases related with Downslanted palpebral fissures and Syndactyly

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


Top matches:

Medium match OTOFACIOCERVICAL SYNDROME 2; OTFCS2


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

Medium match AUTOSOMAL DOMINANT MULTIPLE PTERYGIUM SYNDROME


Autosomal dominant multiple pterygium syndrome is a rare distal arthrogryposis syndrome characterized by multiple pterygia (typically involving the neck, axilla and popliteal areas), joint contractures, ptosis, camptodactyly of the hands with hypoplastic flexion creases, vertebral fusions, severe scoliosis and short stature.

AUTOSOMAL DOMINANT MULTIPLE PTERYGIUM SYNDROME Is also known as distal arthrogryposis type 8|multiple pterygium syndrome, autosomal dominant|pterygium syndrome, multiple, autosomal dominant

Related symptoms:

  • Short stature
  • Scoliosis
  • Cleft palate
  • Ptosis
  • Flexion contracture


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL DOMINANT MULTIPLE PTERYGIUM SYNDROME

Medium match WAARDENBURG SYNDROME TYPE 3


Waardenburg syndrome type 3 (WS3) is a very rare subtype of Waardenburg syndrome (WS; see this term) that is characterized by limb anomalies in association with congenital hearing loss, minor defects in structures arising from neural crest, resulting in pigmentation anomalies of eyes, hair, and skin.

WAARDENBURG SYNDROME TYPE 3 Is also known as klein-waardenburg syndrome|waardenburg syndrome with limb anomalies|waardenburg syndrome type iii|ws3

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Microcephaly
  • Downslanted palpebral fissures
  • Atrial septal defect


SOURCES: ORPHANET MENDELIAN

More info about WAARDENBURG SYNDROME TYPE 3

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Other less relevant matches:

Medium match 2Q24 MICRODELETION SYNDROME


2q24 microdeletion syndrome is a chromosomal anomaly consisting of a partial long arm deletion of chromosome 2 and characterized clinically by a wide range of manifestations (depending on the specific region deleted) which can include seizures, microcephaly, dysmorphic features, cleft palate, eye abnormalities (coloboma, cataract and microphthalmia), growth retardation, failure to thrive, heart defects, limb anomalies, developmental delay and autism.

2Q24 MICRODELETION SYNDROME Is also known as monosomy 2q24|del(2)(q24)

Related symptoms:

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


SOURCES: ORPHANET MESH MENDELIAN

More info about 2Q24 MICRODELETION SYNDROME

Medium 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

Medium match BARDET-BIEDL SYNDROME


Bardet-Biedl syndrome (BBS) is a ciliopathy with multisystem involvement.

BARDET-BIEDL SYNDROME Is also known as bbs

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Nystagmus
  • Cryptorchidism


SOURCES: ORPHANET MENDELIAN

More info about BARDET-BIEDL SYNDROME

Medium 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

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

Medium match ZLOTOGORA-OGUR 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

Medium match ROSSELLI-GULIENETTI SYNDROME


Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about ROSSELLI-GULIENETTI SYNDROME

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

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Finger syndactyly Uncommon - Between 30% and 50% cases
Low-set, posteriorly rotated ears Uncommon - Between 30% and 50% cases
Toe syndactyly Uncommon - Between 30% and 50% cases
Micrognathia Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Global developmental delay Short stature Short neck Cleft palate Camptodactyly of finger Scoliosis Abnormality of dental enamel Neurological speech impairment Sparse eyelashes Abnormality of dental morphology Cutaneous syndactyly of toes Hearing impairment Hypogonadism Macrotia Cutaneous finger syndactyly Hypertelorism Seizures Carious teeth Wide nasal bridge

Rare Symptoms - Less than 30% cases


Fine hair Epicanthus Sparse scalp hair Malar flattening Abnormality of cardiovascular system morphology Cryptorchidism Long philtrum Inguinal hernia Joint hyperflexibility Small hand Abnormality of the dentition Round face Triangular face Hyperlordosis Midface retrusion Sparse and thin eyebrow Progressive hypotrichosis Abnormality of the philtrum Pili torti Dystrophic fingernails Sparse lateral eyebrow Dystrophic toenail Anodontia Bilateral cleft lip and palate Abnormality of the ureter Abnormality of the ear Palmoplantar hyperkeratosis Scrotal hypoplasia Bilateral single transverse palmar creases Hypohidrosis Recurrent respiratory infections Microdontia Wide intermamillary distance Nail dysplasia Ectodermal dysplasia Hypodontia Highly arched eyebrow Oral cleft Cleft upper lip Synophrys Sparse hair Protruding ear Microphthalmia Cleft lip EEG abnormality Severe global developmental delay Hypoplasia of penis Telecanthus Microcephaly Cutaneous syndactyly Low-set ears Cataract Failure to thrive Pterygium Clinodactyly Retrognathia Microretrognathia Joint stiffness Dental malocclusion Tall stature Hoarse voice Abnormality of the fingernails Accelerated skeletal maturation Redundant skin Sandal gap Deep philtrum Abnormality of the metaphysis Large hands Hypoplastic toenails Broad foot Thin nail Deep-set nails Abnormally low-pitched voice Broad thumb Behavioral abnormality Broad forehead 4-5 finger syndactyly Hip contracture Cranial hyperostosis Broad long bones Persistent pupillary membrane Macrodontia of permanent maxillary central incisor Fifth finger distal phalanx clinodactyly 2-4 toe cutaneous syndactyly Feeding difficulties in infancy Spasticity Macrocephaly Talipes equinovarus Hypertonia Pes cavus Vertebral fusion Nasal speech Knee flexion contracture Alopecia Bilateral cleft lip Abnormal dermatoglyphics Scapular winging Brittle hair Aplasia/Hypoplasia of the eyebrow Long eyelashes Blue sclerae Hypoplasia of the zygomatic bone Preauricular pit Gliosis Tapered finger Intellectual disability, moderate Abnormality of the skeletal system Hypotrichosis Scaling skin Anhidrosis Cupped ear Mixed hearing impairment Abnormal palate morphology Craniosynostosis Hyperhidrosis Hemivertebrae Large earlobe Abnormality of the kidney Elbow flexion contracture Arthrogryposis multiplex congenita Nail dystrophy Down-sloping shoulders Camptodactyly Pectus excavatum Flexion contracture Ptosis Mastoiditis Alacrima Lacrimal duct stenosis Hypoplasia of teeth Basal ganglia calcification Mild global developmental delay Abnormality of the voice White hair Abnormality of finger Acrocyanosis Tracheomalacia Recurrent fractures Synostosis of carpal bones Preauricular skin tag High pitched voice Intellectual disability, severe Abnormality of bone mineral density Cat cry Nystagmus Narrow nasal bridge Hypertension Skeletal muscle atrophy Obesity Abnormality of the upper limb Intrauterine growth retardation Prominent nasal bridge Central apnea Autistic behavior Coloboma Short philtrum Small for gestational age Arachnodactyly Interphalangeal joint contracture of finger Long fingers Small face Atelectasis Hand clenching Abnormal oral frenulum morphology Abnormality iris morphology Bullet-shaped distal phalanx of the hallux Muscular hypotonia High palate Growth delay Tented upper lip vermilion Abnormality of the face Spinal cord compression Large fontanelles Delayed eruption of teeth Microcornea Hypoplasia of the maxilla Underdeveloped nasal alae Overgrowth Short palpebral fissure Atrial septal defect Dental crowding Thin vermilion border Multiple pterygia Spondylolisthesis Distal arthrogryposis Hyperostosis Long nose Neonatal hypotonia Narrow nose Short foot Deeply set eye Pigmentary retinopathy Hypoplasia of the ovary Postaxial hand polydactyly Thick eyebrow Nephrotic syndrome Hepatic fibrosis Generalized hirsutism Multicystic kidney dysplasia Abnormal electroretinogram Medial flaring of the eyebrow Narrow mouth Spastic paraplegia Delayed speech and language development Myopia Frontal bossing Blepharophimosis Delayed skeletal maturation Brachycephaly Anteverted ears



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