Downslanted palpebral fissures, and Clinodactyly of the 5th finger

Diseases related with Downslanted palpebral fissures and Clinodactyly of the 5th finger

In the following list you will find some of the most common rare diseases related to Downslanted palpebral fissures and Clinodactyly of the 5th finger that can help you solving undiagnosed cases.


Top matches:

High match SECKEL SYNDROME 5; SCKL5


Seckel syndrome is an autosomal recessive disorder characterized by proportionate short stature, severe microcephaly, mental retardation, and a typical 'bird-head' facial appearance (summary by Kalay et al., 2011).For a general phenotypic description and a discussion of genetic heterogeneity of Seckel syndrome, see {210600}.

Related symptoms:

  • Intellectual disability
  • Short stature
  • Microcephaly
  • Micrognathia
  • Strabismus


SOURCES: OMIM MENDELIAN

More info about SECKEL SYNDROME 5; SCKL5

High match MACROCEPHALY-DEVELOPMENTAL DELAY SYNDROME


Macrocephaly-developmental delay syndrome is a rare, intellectual disability syndrome characterized by macrocephaly, mild dysmorphic features (frontal bossing, long face, hooded eye lids with small, downslanting palpebral fissures, broad nasal bridge, and prominent chin), global neurodevelopmental delay, behavioral abnormalities (e.g. anxiety, stereotyped movements) and absence or generalized tonic-clonic seizures. Additional features reported in some patients include craniosynostosis, fifth finger clinodactyly, recurrent pneumonia, and hepatosplenomegaly.

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • High palate


SOURCES: ORPHANET OMIM MENDELIAN

More info about MACROCEPHALY-DEVELOPMENTAL DELAY SYNDROME

High match SECKEL SYNDROME


Seckel syndrome is a type of microcephalic primordial dwarfism that is characterized by a proportionate dwarfism of prenatal onset, a severe microcephaly, a typical dysmorphic face (bird-like), and mild to severe intellectual disability.

Related symptoms:

  • Intellectual disability
  • Short stature
  • Microcephaly
  • Scoliosis
  • Micrognathia


SOURCES: ORPHANET MENDELIAN

More info about SECKEL SYNDROME

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Other less relevant matches:

High match 17P13.3 MICRODUPLICATION SYNDROME


17p13.3 microduplication syndrome is characterized by variable psychomotor delay and dysmorphic features.

17P13.3 MICRODUPLICATION SYNDROME Is also known as 17p13.3 duplication syndrome|dup(17)(p13.3)|trisomy 17p13.3

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Growth delay


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about 17P13.3 MICRODUPLICATION SYNDROME

High 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

High match MIDFACE HYPOPLASIA, HEARING IMPAIRMENT, ELLIPTOCYTOSIS, AND NEPHROCALCINOSIS; MFHIEN


Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis is an X-linked recessive disorder with onset of features in early childhood. Anemia is sometimes present. Some patients may show mild early motor or speech delay, but cognition is normal (summary by Andreoletti et al., 2017).

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Micrognathia


SOURCES: OMIM MENDELIAN

More info about MIDFACE HYPOPLASIA, HEARING IMPAIRMENT, ELLIPTOCYTOSIS, AND NEPHROCALCINOSIS; MFHIEN

High match CHAR SYNDROME


Char syndrome is characterized by the triad of patent ductus arteriosus (PDA), facial dysmorphism and hand anomalies.

CHAR SYNDROME Is also known as patent ductus arteriosus with facial dysmorphism and abnormal fifth digits

Related symptoms:

  • Global developmental delay
  • Hearing impairment
  • Hypertelorism
  • Strabismus
  • Abnormal facial shape


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about CHAR SYNDROME

High match HYPERFERRITINEMIA WITH OR WITHOUT CATARACT; HRFTC


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 SHORT STATURE, FACIAL DYSMORPHISM, AND SKELETAL ANOMALIES WITH OR WITHOUT CARDIAC ANOMALIES; SSFSC


Patients with SSFSC have short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies. Distinctive facial features include midface retrusion, short upturned nose, long philtrum, high-arched or cleft palate, and variable degrees of micrognathia and dental crowding. Skeletal anomalies include patterning defects of the axial skeleton, characterized by 11 pairs of ribs and brachydactyly of the fifth ray. Congenital heart defects are variably observed and appear to involve primarily the cardiac outflow tract (Tan et al., 2017).

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Micrognathia
  • Abnormal facial shape


SOURCES: OMIM MENDELIAN

More info about SHORT STATURE, FACIAL DYSMORPHISM, AND SKELETAL ANOMALIES WITH OR WITHOUT CARDIAC ANOMALIES; SSFSC

High match RUBINSTEIN-TAYBI SYNDROME DUE TO 16P13.3 MICRODELETION


RUBINSTEIN-TAYBI SYNDROME DUE TO 16P13.3 MICRODELETION Is also known as rubinstein-taybi deletion syndrome|rsts deletion syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about RUBINSTEIN-TAYBI SYNDROME DUE TO 16P13.3 MICRODELETION

Top 5 symptoms//phenotypes associated to Downslanted palpebral fissures and Clinodactyly of the 5th finger

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Micrognathia Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
Abnormal facial shape Uncommon - Between 30% and 50% cases
Clinodactyly Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Downslanted palpebral fissures and Clinodactyly of the 5th finger. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Global developmental delay Generalized hypotonia Strabismus High palate Microcephaly Delayed skeletal maturation Hearing impairment Myopia Low-set ears Convex nasal ridge Wide nasal bridge Delayed speech and language development Hypertelorism Frontal bossing Failure to thrive Finger clinodactyly Cleft palate Broad forehead Craniosynostosis Short neck Cataract Short nose Midface retrusion Narrow mouth Dental crowding Long philtrum

Rare Symptoms - Less than 30% cases


Muscular hypotonia Syndactyly Toe syndactyly Sparse scalp hair Delayed eruption of teeth Abnormality of dental enamel Low-set, posteriorly rotated ears Sandal gap Intrauterine growth retardation Mild global developmental delay Hypoplasia of penis Overgrowth High forehead Anemia Sleep disturbance Thin vermilion border Prominent forehead Cryptorchidism Retrognathia Pes planus Ventricular septal defect Hypodontia Anteverted nares Proportionate short stature Abnormality of cardiovascular system morphology Scoliosis Seizures 11 pairs of ribs Conductive hearing impairment Synophrys Everted lower lip vermilion Malar flattening Broad nasal tip Patent ductus arteriosus Thin upper lip vermilion Thick vermilion border Mesoaxial foot polydactyly Distal/middle symphalangism of 5th finger Visual impairment Macrotia Depressed nasal bridge Photophobia Joint stiffness Intellectual disability, mild Severe global developmental delay Ptosis Congenital cataract Anal atresia Congestive heart failure Premature birth Coarse hair Polydactyly Hand polydactyly Thick eyebrow Short philtrum Bicuspid aortic valve Protruding ear Supernumerary nipple Prominent occiput Short middle phalanx of the 5th finger Symphalangism of the 5th finger Persistence of primary teeth Triangular mouth Depressed nasal ridge Coarctation of aorta Mesoaxial hand polydactyly No permanent dentition Parasomnia Muscular ventricular septal defect Highly arched eyebrow Abnormality of the skeletal system Webbed neck Obesity Obstructive sleep apnea Pierre-Robin sequence Supraventricular tachycardia Wolff-Parkinson-White syndrome Spondylolisthesis Short 5th metacarpal Perimembranous ventricular septal defect Anterior open bite Prominent sternum Paroxysmal supraventricular tachycardia Recurrent infections Abnormality of the kidney Sleep apnea Feeding difficulties in infancy Prominent nose Renal agenesis Broad thumb Broad hallux Hypoplastic left heart Low hanging columella Polysplenia Facial hemangioma Facial hypertrichosis Nevus sebaceous Transposition of the great arteries Infantile muscular hypotonia High myopia Pulverulent cataract Bilateral single transverse palmar creases Abnormality of the fingernails Polycystic ovaries Hypoplastic toenails Non-midline cleft lip Microcytic anemia Iron deficiency anemia Increased serum ferritin Abnormality of the elbow Ectopic anus Nuclear cataract Brachydactyly Spina bifida occulta Mild conductive hearing impairment Pectus excavatum Arrhythmia Abnormal heart morphology Posteriorly rotated ears Osteopenia Apnea Pulmonic stenosis Tachycardia Narrow forehead Palpitations Short toe Cleft hard palate Persistent pupillary membrane Broad distal phalanx of finger Cerebellar atrophy Cachexia Cone-shaped epiphysis Prematurely aged appearance Abnormality of earlobe Absent earlobe Growth delay Motor delay Ventriculomegaly Hypoplasia of the corpus callosum Behavioral abnormality Narrow face Hernia Inguinal hernia Hyperactivity Micropenis Autism Attention deficit hyperactivity disorder Wide nose Tall stature Pointed chin Congenital hip dislocation Reduced number of teeth Hip dysplasia Large for gestational age Macrocephaly Severe short stature Blepharophimosis Prominent nasal bridge Sloping forehead Oligodontia Clitoral hypertrophy Abnormal cortical gyration Selective tooth agenesis Large beaked nose Pneumonia Joint hyperflexibility Mandibular prognathia Hepatosplenomegaly Anxiety Aggressive behavior Stereotypy Recurrent pneumonia Microretrognathia Scaphocephaly Cognitive impairment Glaucoma Lissencephaly Disproportionate tall stature Elliptocytosis Talipes Cranial hyperostosis Broad long bones Macrodontia of permanent maxillary central incisor Fifth finger distal phalanx clinodactyly 4-5 finger syndactyly 2-4 toe cutaneous syndactyly Sensorineural hearing impairment Talipes equinovarus Hydronephrosis Joint hypermobility Hypoplasia of teeth Flat face Bifid uvula Esotropia Renal dysplasia Nephrocalcinosis Hypercalciuria Patent foramen ovale Mixed hearing impairment Severe sensorineural hearing impairment Large forehead Cutaneous syndactyly of toes Large earlobe Epicanthus Triangular face Abnormality of the dentition Microphthalmia Brachycephaly Deeply set eye Telecanthus Small hand Short foot Microcornea Hypoplasia of the maxilla Dental malocclusion Spinal cord compression Underdeveloped nasal alae Short palpebral fissure Fine hair Large fontanelles Sparse eyelashes Abnormality of dental morphology Hyperostosis Long nose Basal ganglia calcification Narrow nose Abnormality of the hairline



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