Downslanted palpebral fissures, and Short metacarpal

Diseases related with Downslanted palpebral fissures and Short metacarpal

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


Top matches:

High match BRACHYDACTYLY-SHORT STATURE-RETINITIS PIGMENTOSA 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 EHLERS-DANLOS SYNDROME, SPONDYLOCHEIRODYSPLASTIC TYPE


Ehlers-Danlos syndrome, spondylocheirodysplastic type is a subtype of Ehlers-Danlos syndrome characterized by skeletal dysplasia comprising platyspondyly with moderate short stature, osteopenia and widened metaphyses, in addition to hyperextensible, thin, easily bruised skin, hypermobility of small joints with tendency to contractures, prominent eyes with bluish sclerae, wrinkled palms, atrophy of the thenar muscle and tapering fingers.

EHLERS-DANLOS SYNDROME, SPONDYLOCHEIRODYSPLASTIC TYPE Is also known as eds, spondylocheirodysplastic type|spondylocheirodysplasia, ehlers-danlos syndrome-like|scd-eds

Related symptoms:

  • Short stature
  • Growth delay
  • Failure to thrive
  • Flexion contracture
  • High palate


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about EHLERS-DANLOS SYNDROME, SPONDYLOCHEIRODYSPLASTIC TYPE

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

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Other less relevant matches:

High match CROUZON SYNDROME-ACANTHOSIS NIGRICANS SYNDROME


Crouzon syndrome with acanthosis nigricans (CAN) is a very rare, clinically heterogeneous form of faciocraniostenosis with Crouzon-like features and premature synostosis of cranial sutures (Crouzon disease, see this term), associated with acanthosis nigricans (AN; see this term).

CROUZON SYNDROME-ACANTHOSIS NIGRICANS SYNDROME Is also known as crouzon-dermoskeletal syndrome|crouzonodermoskeletal syndrome

Related symptoms:

  • Short stature
  • Hypertelorism
  • Failure to thrive
  • Strabismus
  • Cleft palate


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about CROUZON SYNDROME-ACANTHOSIS NIGRICANS SYNDROME

High match OSTEOGLOSPHONIC DYSPLASIA


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

High match 15Q13.3 MICRODELETION SYNDROME


15q13.3 microdeletion (microdel15q13.3) syndrome is characterized by a wide spectrum of neurodevelopmental disorders with no or subtle dysmorphic features.

15Q13.3 MICRODELETION SYNDROME Is also known as del(15)(q13.3)|chromosome 15q13.3 microdeletion syndrome|monosomy 15q13.3

Related symptoms:

  • Seizures
  • Schizophrenia
  • Bipolar affective disorder


SOURCES: MESH MENDELIAN

More info about 15Q13.3 MICRODELETION SYNDROME

High match OTOPALATODIGITAL SYNDROME, TYPE I; OPD1


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

High match INTELLECTUAL DISABILITY-SPARSE HAIR-BRACHYDACTYLY SYNDROME


Intellectual disability-sparse hair-brachydactyly syndrome is a very rare condition of unknown etiology consisting of short stature, hypotrichosis, brachydactyly with cone-shaped epiphyses, epilepsy and severe mental delay. After the initial delineation of this syndrome by Nicolaides and Baraitser in 1993, only five more patients were published in the literature up to now.

INTELLECTUAL DISABILITY-SPARSE HAIR-BRACHYDACTYLY SYNDROME Is also known as sparse hair and mental retardation|nbs|nicolaides-baraitser syndrome

Related symptoms:

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


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about INTELLECTUAL DISABILITY-SPARSE HAIR-BRACHYDACTYLY SYNDROME

High match FRONTOMETAPHYSEAL DYSPLASIA 2; FMD2


Frontometaphyseal dysplasia (FMD) is a progressive sclerosing skeletal dysplasia characterized by supraorbital hyperostosis, undermodeling of the small bones, and small and large joint contractures, as well as extraskeletal developmental abnormalities, primarily of the cardiorespiratory system and genitourinary tract. Patients with FMD2 appear to have a propensity for keloid formation (summary by Wade et al., 2016).For a discussion of genetic heterogeneity of frontometaphyseal dysplasia, see FMD1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Scoliosis
  • Hypertelorism
  • Sensorineural hearing impairment


SOURCES: OMIM MENDELIAN

More info about FRONTOMETAPHYSEAL DYSPLASIA 2; FMD2

High match ROIFMAN SYNDROME


Roifman syndrome is a rare, genetic immuno-osseous dysplasia disorder characterized by pre- and post-natal growth retardation, hypotonia, borderline to moderate intellectual disability, retinal dystrophy, spondyloepiphyseal dysplasia (epiphyseal dysplasia, epiphyses ossification delay, vertebral changes) and skeletal anomalies (brachydactyly, fifth finger clinodactyly), as well as humeral immunodeficiency characterized by inability to generate specific antibodies and low circulating B-cells. Craniofacial dysmorphism, that typically inlcudes microcephaly, hypertelorism, long palpebral fissures, prominent eyelashes, a narrow, tubular, upturned nose with hypoplastic alae nasi, long philtrum and thin upper lip, are also associated.

ROIFMAN SYNDROME Is also known as spondyloepiphyseal dysplasia-retinal dystrophy-immunodeficiency syndrome|spondyloepiphyseal dysplasia, retinal dystrophy, and antibody deficiency

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about ROIFMAN SYNDROME

Top 5 symptoms//phenotypes associated to Downslanted palpebral fissures and Short metacarpal

Symptoms // Phenotype % cases
Short stature Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Brachydactyly Common - Between 50% and 80% cases
Low-set ears Uncommon - Between 30% and 50% cases
Scoliosis Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Hypertelorism Conductive hearing impairment Midface retrusion Anteverted nares Cleft palate High palate Failure to thrive Growth delay Long philtrum Micrognathia Malar flattening Frontal bossing Intellectual disability, mild Short palm Severe short stature Clinodactyly Postnatal growth retardation Global developmental delay Generalized hypotonia Pectus excavatum Short phalanx of finger Abnormality of the metacarpal bones Finger clinodactyly Bifid uvula Clinodactyly of the 5th finger Skeletal dysplasia Short metatarsal Microcephaly Short nose Bowing of the long bones Sandal gap Depressed nasal bridge Feeding difficulties Ventricular septal defect Abnormal facial shape Hearing impairment Cryptorchidism Craniosynostosis Delayed skeletal maturation

Rare Symptoms - Less than 30% cases


Brachycephaly Abnormality of the skeletal system Wide nasal bridge Posteriorly rotated ears Thin upper lip vermilion Delayed speech and language development Synophrys Pulmonic stenosis Tachycardia Everted lower lip vermilion Seizures Short toe Hip contracture Eczema Proportionate short stature Pierre-Robin sequence Thick eyebrow Full cheeks Broad forehead Low anterior hairline Broad nasal tip Dental malocclusion Short distal phalanx of finger Dislocated radial head Cloverleaf skull Underdeveloped nasal alae Flexion contracture Short neck Proptosis Osteopenia Platyspondyly Prominent supraorbital ridges Abnormality of the genitourinary system Intrauterine growth retardation Irregular vertebral endplates Blue sclerae Short 5th metacarpal Congenital hip dislocation Prominent eyelashes Narrow palpebral fissure Abnormal form of the vertebral bodies Choanal atresia Joint dislocation Coxa valga Overfolded helix Wide intermamillary distance Absence seizures Cone-shaped epiphysis Specific learning disability Broad-based gait Status epilepticus Mutism Drooling Thick lower lip vermilion Short palpebral fissure Widely spaced teeth Abnormality of epiphysis morphology Accelerated skeletal maturation Sparse scalp hair Long eyelashes Broad distal phalanx of the thumb Triangular face Long second metacarpal Obesity Hernia Absent speech Abnormality of cardiovascular system morphology Intellectual disability, severe Abnormality of the fifth metatarsal bone Short 3rd metacarpal Osteoporosis Lateral femoral bowing Bulbous tips of toes Thick skull base Limited knee flexion Capitate-hamate fusion Abnormality of the tarsal bones Accessory carpal bones Alopecia Autism Highly arched eyebrow Blepharophimosis High, narrow palate Wide nose Thin vermilion border Smooth philtrum Poor speech Hypotrichosis Small for gestational age Sparse hair Coarse facial features Bipartite calcaneus Multiple impacted teeth Aphasia Wide mouth Autistic behavior Aggressive behavior Deeply set eye Absent eyebrow Feeding difficulties in infancy Dysphasia Vomiting Lymphadenopathy Hepatosplenomegaly Hypogonadism Agenesis of corpus callosum Pneumonia Immunodeficiency Splenomegaly Edema Retinal dystrophy Fatigue Hepatomegaly Muscular hypotonia Large joint dislocations Sclerotic vertebral endplates Subglottic stenosis Ulnar deviation of the hand Fused cervical vertebrae Downturned corners of mouth Single transverse palmar crease Ulcerative colitis Partial agenesis of the corpus callosum Irregular femoral epiphysis Noncompaction cardiomyopathy Humoral immunodeficiency Short digit Pulmonary edema Narrow nose Long palpebral fissure Spondyloepiphyseal dysplasia Premature birth Pleural effusion Eosinophilia Tachypnea Recurrent pneumonia Meningitis Sinusitis Recurrent otitis media Cardiomegaly Neurogenic bladder Tracheal stenosis Narrow nasal bridge Wide nasal base Prominent interphalangeal joints Curly eyelashes Clubbing of toes Thick nasal alae Excessive wrinkled skin Broad distal phalanx of finger Eclabion Broad columella Prominent proximal interphalangeal joints Enlarged joints Broad philtrum Abnormality of the testis Abnormal hair pattern Echolalia Abnormality of finger Epileptic spasms Protruding tongue Unilateral narrow palpebral fissure Sensorineural hearing impairment Decreased muscle mass Webbed neck Hyperostosis Stridor Patent foramen ovale Pyloric stenosis Deep philtrum Bicuspid aortic valve Pointed chin Hirsutism Talipes equinovarus Delayed puberty Short philtrum Scarring Abnormality of the pinna Hypoplastic frontal sinuses Camptodactyly Gastroesophageal reflux Patent ductus arteriosus Abnormal vertebral segmentation and fusion Schizophrenia Absent frontal sinuses Obstructive sleep apnea Anterior open bite Perimembranous ventricular septal defect Spondylolisthesis Wolff-Parkinson-White syndrome 11 pairs of ribs Supraventricular tachycardia Transposition of the great arteries Paroxysmal supraventricular tachycardia Sleep apnea Infantile muscular hypotonia Spina bifida occulta Dental crowding Palpitations Narrow forehead Prominent sternum Strabismus Low-set, posteriorly rotated ears Hypoplasia of the maxilla Abnormal palate morphology Acanthosis nigricans Epidermal acanthosis Convex nasal ridge Migraine Nevus Hypopigmentation of the skin Ptosis Dry skin High forehead Renal insufficiency Hydrocephalus Respiratory insufficiency Optic atrophy Visual impairment Apnea Abnormal heart morphology Increased intracranial pressure Small nail Camptodactyly of finger Joint laxity Pes planus Metaphyseal chondrodysplasia Congenital blindness Horseshoe kidney Renal cyst Tapered finger Retinal degeneration Nyctalopia Intellectual disability, moderate Macrotia Rod-cone dystrophy Blindness Macrocephaly Bruising susceptibility Delayed eruption of teeth Arrhythmia Broad femoral neck Absent palmar crease Cigarette-paper scars Moderately short stature Thenar muscle atrophy Flattened epiphysis Flat capital femoral epiphysis Prominent superficial veins Hypodontia Short femoral neck Metaphyseal widening Hyperextensible skin Joint contracture of the hand Abnormality of the metaphysis Thin skin Waddling gait Arnold-Chiari malformation Laryngomalacia Selective tooth agenesis Narrow mouth Nail dysplasia Limitation of joint mobility Flat face Toe syndactyly Nail dystrophy Hip dislocation Syndactyly Broad thumb Bipolar affective disorder Multiple unerupted teeth Unerupted tooth Pseudoarthrosis Broad metacarpals Broad metatarsal Broad phalanx Omphalocele Short thumb Abnormality of the nasopharynx Synostosis of carpal bones Delayed closure of the anterior fontanelle Broad face Bifid tongue Short 4th metacarpal Short hallux Anodontia Thickened calvaria Increased bone mineral density Limited elbow extension Prominent occiput Thoracic hypoplasia Broad hallux Proximal placement of thumb Elbow dislocation Oligodontia Abnormal bone ossification Renal phosphate wasting Glomerulonephritis Bicoronal synostosis Inguinal hernia Depressivity Hypospadias Respiratory distress Short uvula Membranous nephropathy Brachyturricephaly Protruding ear Abnormal sacrum morphology Craniofacial dysostosis Inflammatory abnormality of the eye Choanal stenosis Turricephaly Aplasia/Hypoplasia of the cerebellum Melanocytic nevus Mandibular prognathia Short foot Chordee Broad palm Nasal obstruction Spondyloepimetaphyseal dysplasia Hypoplastic scapulae Abnormality of the clavicle Broad foot Shallow orbits Hypophosphatemia Limb undergrowth Hypoplastic toenails Failure to thrive in infancy Increased susceptibility to fractures Reduced number of teeth Disproportionate short-limb short stature Plagiocephaly Rhizomelia Biconvex vertebral bodies



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