Downslanted palpebral fissures, and Single transverse palmar crease

Diseases related with Downslanted palpebral fissures and Single transverse palmar crease

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

Top matches:

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

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about ROSSELLI-GULIENETTI SYNDROME

MICROPHTHALMIA WITH LIMB ANOMALIES; MLA Is also known as waardenburg anophthalmia syndrome|anophthalmia-syndactyly|ophthalmoacromelic syndrome|oas

Related symptoms:

  • Intellectual disability
  • Growth delay
  • Cleft palate
  • Low-set ears
  • High palate


SOURCES: OMIM MENDELIAN

More info about MICROPHTHALMIA WITH LIMB ANOMALIES; MLA

Other less relevant matches:

Sheldon-Hall syndrome (SHS) is a rare multiple congenital contracture syndrome characterized by contractures of the distal joints of the limbs, triangular face, downslanting palpebral fissures, small mouth, and high arched palate.

SHELDON-HALL SYNDROME Is also known as arthrogryposis multiplex congenita, distal, type ii, with craniofacial abnormalities|sheldon-hall syndrome|shs|distal arthrogryposis type 2b|fssv|arthrogryposis multiplex congenita, distal, type 2b|freeman-sheldon syndrome variant

Related symptoms:

  • Short stature
  • Hearing impairment
  • Scoliosis
  • Hypertelorism
  • Micrognathia


SOURCES: OMIM ORPHANET MENDELIAN

More info about SHELDON-HALL SYNDROME

FAMILIAL ADENOMATOUS POLYPOSIS DUE TO 5Q22.2 MICRODELETION Is also known as familial adenomatous polyposis due to del(5)(q22.2)|colorectal adenomatous polyposis due to monosomy 5q22.2|familial polyposis coli due to monosomy 5q22.2|familial adenomatous polyposis due to monosomy 5q22.2|fap due to monosomy 5q22.2

Related symptoms:


SOURCES: ORPHANET MENDELIAN

More info about FAMILIAL ADENOMATOUS POLYPOSIS DUE TO 5Q22.2 MICRODELETION

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

High match RIN2 SYNDROME

RIN2 syndrome, formerly known as macrocephaly, alopecia, cutis laxa and scoliosis (MACS) syndrome, is a very rare inherited connective tissue disorder characterized by macrocephaly, sparse scalp hair, soft-redundant and hyperextensible skin, joint hypermobility, and scoliosis. Patients have progressive facial coarsening with downslanted palpebral fissures, upper eyelid fullness/infraorbital folds, thick/everted vermillion, gingival overgrowth and abnormal position of the teeth. Rarer manifestations such as abnormal high-pitched voice, bronchiectasis, hypergonadotropic hypergonadism and brachydactyly (see this term) have also been reported.

RIN2 SYNDROME Is also known as rin2 deficiency|tall forehead, sparse hair, skin hyperextensibility, and scoliosis|tall forehead-sparse hair-skin hyperextensibility-scoliosis syndrome|macrocephaly-alopecia-cutis laxa-scoliosis syndrome|macs syndrome|macrocephaly, alopecia, cutis laxa, a

Related symptoms:

  • Intellectual disability
  • Short stature
  • Scoliosis
  • Muscular hypotonia
  • Cryptorchidism


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about RIN2 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

Potocki-Shaffer syndrome is characterized by multiple exostoses, parietal foramina, enlargement of the anterior fontanelle and occasionally intellectual deficit and mild cranio-facial anomalies. To date, 23 individuals from 14 families have been reported. The syndrome is caused by contiguous gene deletions on the short arm of chromosome 11 (11p11.2).

POTOCKI-SHAFFER SYNDROME Is also known as proximal 11p deletion syndrome|defect11 syndrome|pss|chromosome 11p11.2 deletion syndrome|11p11.2 deletion|p11pds

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about POTOCKI-SHAFFER SYNDROME

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hearing impairment
  • Failure to thrive
  • Micrognathia


SOURCES: OMIM MENDELIAN

More info about MEIER-GORLIN SYNDROME 6; MGORS6

Top 5 symptoms//phenotypes associated to Downslanted palpebral fissures and Single transverse palmar crease

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Micrognathia Common - Between 50% and 80% cases
Cleft palate Common - Between 50% and 80% cases
Wide nasal bridge Common - Between 50% and 80% cases
Cleft lip Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Downslanted palpebral fissures and Single transverse palmar crease. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Strabismus Short stature Syndactyly Hearing impairment Cryptorchidism Cleft upper lip Bilateral single transverse palmar creases Long philtrum High palate Sparse lateral eyebrow Short neck Epicanthus Sparse and thin eyebrow Ptosis Hypertelorism Abnormality of the ear Oral cleft Seizures Posteriorly rotated ears Protruding ear Hypogonadism Macrotia Midface retrusion Umbilical hernia Hyperlordosis Sparse hair Recurrent respiratory infections Malar flattening Finger syndactyly Short nose Global developmental delay Toe syndactyly

Rare Symptoms - Less than 30% cases

Behavioral abnormality High myopia Broad forehead Cognitive impairment Brachydactyly Anteverted nares Muscular hypotonia Sandal gap Hip dislocation Retrognathia Low-set, posteriorly rotated ears Anemia Clinodactyly of the 5th finger Microcephaly Failure to thrive Webbed neck Talipes High forehead Prominent nasal bridge Camptodactyly of finger Joint stiffness Delayed puberty Abnormality of cardiovascular system morphology Cataract Severe short stature Feeding difficulties Underdeveloped nasal alae Scoliosis Myopia Intrauterine growth retardation Talipes equinovarus Frontal bossing Depressed nasal bridge Nail dysplasia Cutaneous finger syndactyly Hyperextensible skin Palmoplantar hyperkeratosis Scrotal hypoplasia Sparse eyelashes Abnormality of dental enamel Hypohidrosis Sparse scalp hair Microdontia Wide intermamillary distance Ectodermal dysplasia Bilateral cleft lip and palate Triangular face Hypodontia Highly arched eyebrow Synophrys Carious teeth Thick vermilion border Neurological speech impairment Everted lower lip vermilion EEG abnormality Alopecia Abnormality of the dentition Abnormality of the ureter Abnormality of dental morphology Cutaneous syndactyly of toes Dystrophic fingernails Pes planus Hernia Growth delay Progressive hypotrichosis Pili torti Dystrophic toenail Anodontia Abnormality of the philtrum Round face Hypoplasia of the maxilla High pitched voice Delayed eruption of teeth Short foot Megalocornea Shawl scrotum Small hand Short palm Prolonged bleeding time Broad palm Premature ovarian insufficiency Aortic aneurysm External ear malformation Gingival overgrowth Pectus excavatum Abnormality of the sternum Joint hyperflexibility Attention deficit hyperactivity disorder Increased susceptibility to fractures Redundant skin Congestive heart failure Genu recurvatum Cutis laxa Infra-orbital fold Hypergonadotropic hypogonadism Inguinal hernia Upper eyelid edema Abnormal lip morphology Irregular dentition Urethral stenosis Eclabion Generalized osteoporosis Abnormality of the vasculature Palpebral edema Broad foot Nephroblastoma High anterior hairline Lumbar hyperlordosis Cutaneous syndactyly between fingers 2 and 5 Delayed speech and language development Motor delay Delayed skeletal maturation Gastroesophageal reflux Conductive hearing impairment Respiratory tract infection Microtia Small for gestational age Delayed myelination Growth hormone deficiency Hip dysplasia Depressed nasal ridge Parietal foramina Microretrognathia Laryngomalacia Short middle phalanx of finger Emphysema Cortical gyral simplification Tracheomalacia Stenosis of the external auditory canal Hypoplastic labia majora Patellar aplasia Entropion Bronchomalacia Subglottic stenosis Tracheobronchomalacia Multiple exostoses Congenital ptosis Abnormality of the cervical spine Short philtrum Abnormal vertebral segmentation and fusion Nystagmus Sensorineural hearing impairment Abnormal facial shape Hypertension Obesity Brachycephaly Micropenis Autism Hypothyroidism Telecanthus Autistic behavior Downturned corners of mouth Craniofacial dysostosis Broad nasal tip Prominent nose Abnormality of the genital system Wormian bones Cutaneous syndactyly Sparse eyebrow Decreased body weight Self-injurious behavior Aniridia Turricephaly Exostoses Depressed nasal tip Decreased skull ossification Bronchiectasis Absent phalangeal crease Thick lower lip vermilion Foot oligodactyly Deep philtrum Anophthalmia Tibial bowing Oligodactyly Fibular hypoplasia Postaxial foot polydactyly Short femur Abnormal renal morphology Hand oligodactyly Flared nostrils Metacarpal synostosis Horseshoe kidney Camptodactyly of 2nd-5th fingers Fused fourth and fifth metacarpals Muscle weakness Flexion contracture Myopathy Elevated serum creatine phosphokinase Narrow mouth Mandibular prognathia Kyphoscoliosis Facial palsy Camptodactyly Hemivertebrae Abnormality of the hair Abnormality of the foot Scaling skin Hyperhidrosis Abnormality of the kidney Nail dystrophy Abnormal dermatoglyphics Brittle hair Aplasia/Hypoplasia of the eyebrow Bilateral cleft lip Hypoplasia of the zygomatic bone Hypotrichosis Pterygium Anhidrosis Abnormal vertebral morphology Anteverted ears Low-set ears Microphthalmia Prominent forehead Polydactyly Postnatal growth retardation Blepharophimosis Postaxial hand polydactyly Abnormality of the cardiovascular system Short palpebral fissure Split hand Arthrogryposis multiplex congenita Facial asymmetry Narrow forehead Ectopic anus Convex nasal ridge Hypoplasia of penis Abnormality of the fingernails Polycystic ovaries Hypoplastic toenails Non-midline cleft lip Microcytic anemia Iron deficiency anemia Increased serum ferritin Abnormality of the elbow Nuclear cataract Congenital cataract Pulverulent cataract Macrocephaly Dilatation Osteoporosis Coarse facial features Joint laxity Ichthyosis Joint hypermobility Bruising susceptibility Hirsutism Overgrowth Anal atresia Severe global developmental delay Narrow face Tarsal synostosis Congenital hip dislocation Short chin Narrow palpebral fissure Adducted thumb Congenital contracture Rocker bottom foot Metatarsus adductus Multiple joint contractures Mildly elevated creatine phosphokinase Vertebral segmentation defect Abnormality of the hip bone Photophobia Ulnar deviation of finger Aplasia/Hypoplasia of the radius Distal arthrogryposis Trismus Overlapping fingers Calcaneovalgus deformity Ulnar deviation of the hand or of fingers of the hand Ulnar deviation of the wrist Prominent nasolabial fold Round ear Visual impairment Nasogastric tube feeding


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