Micrognathia, and Finger syndactyly

Diseases related with Micrognathia and Finger syndactyly

In the following list you will find some of the most common rare diseases related to Micrognathia and Finger syndactyly that can help you solving undiagnosed cases.


Top matches:

Low match PARIS-TROUSSEAU THROMBOCYTOPENIA


Paris-Trousseau thrombocytopenia (TCPT) is a contiguous gene syndrome characterized by mild bleeding tendency, variable thrombocytopenia (THC), dysmorphic facies, abnormal giant alpha-granules in platelets and dysmegakaryopoiesis.

PARIS-TROUSSEAU THROMBOCYTOPENIA Is also known as chromosome 11q23 deletion syndrome

Related symptoms:

  • Intellectual disability
  • Growth delay
  • Hypertelorism
  • Micrognathia
  • Abnormal facial shape


SOURCES: OMIM ORPHANET MENDELIAN

More info about PARIS-TROUSSEAU THROMBOCYTOPENIA

Low match AUTOSOMAL DOMINANT POPLITEAL PTERYGIUM SYNDROME


Autosomal dominant popliteal pterygium syndrome (AD-PPS) is a rare genetic malformative disorder characterized by cleft lip, with or without cleft palate, contractures of the lower extremities, abnormal external genitalia, syndactyly of fingers and/or toes, and a pyramidal skin fold over the hallux nail.

AUTOSOMAL DOMINANT POPLITEAL PTERYGIUM SYNDROME Is also known as facio-genito-popliteal syndrome|popliteal web syndrome

Related symptoms:

  • Scoliosis
  • Micrognathia
  • Cleft palate
  • Cryptorchidism
  • Thin upper lip vermilion


SOURCES: ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL DOMINANT POPLITEAL PTERYGIUM SYNDROME

Low 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

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Other less relevant matches:

Low match BOOMERANG DYSPLASIA


Boomerang dysplasia (BD) is a rare lethal skeletal dysplasia characterized by severe short-limbed dwarfism, dislocated joints, club feet, distinctive facies and diagnostic x-ray findings of underossified and dysplastic long tubular bones, with a boomerang-like bowing.

Related symptoms:

  • Micrognathia
  • Cryptorchidism
  • Brachydactyly
  • Wide nasal bridge
  • Macrocephaly


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about BOOMERANG DYSPLASIA

Low 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

Low 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

Low 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

Low match ROSSELLI-GULIENETTI SYNDROME


Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about ROSSELLI-GULIENETTI SYNDROME

Low match GORDON SYNDROME


Gordon syndrome, also known as distal arthrogryposis type 3, is an extremely rare multiple congenital malformation syndrome characterized by congenital contractures of hand and feet with variable degrees of severity of camptodactyly, clubfoot and, less frequently, cleft palate. Intelligence is normal but in some cases, additional abnormalities, such as short stature, kyphoscoliosis, ptosis, micrognathia, and cryptorchidism may also be present. Gordon syndrome, Marden-Walker syndrome and arthrogryposis with oculomotor limitation and electroretinal anomalies clinically and genetically overlap, and could represent variable expressions of the same condition.

GORDON SYNDROME Is also known as distal arthrogryposis type iia|arthrogryposis multiplex congenita, distal, type iia|camptodactyly, cleft palate, and clubfoot|gordon syndrome|distal arthrogryposis type 3|camptodactyly-cleft palate-clubfoot syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Scoliosis


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about GORDON SYNDROME

Low match THROMBOCYTOPENIA-ABSENT RADIUS SYNDROME


Thrombocytopenia-absent radius (TAR) syndrome is a very rare congenital malformation syndrome characterized by bilateral radial aplasia and thrombocytopenia.

THROMBOCYTOPENIA-ABSENT RADIUS SYNDROME Is also known as tar syndrome

Related symptoms:

  • Scoliosis
  • Micrognathia
  • Sensorineural hearing impairment
  • Cleft palate
  • Thrombocytopenia


SOURCES: ORPHANET MENDELIAN

More info about THROMBOCYTOPENIA-ABSENT RADIUS SYNDROME

Top 5 symptoms//phenotypes associated to Micrognathia and Finger syndactyly

Symptoms // Phenotype % cases
Intellectual disability Uncommon - Between 30% and 50% cases
Syndactyly Uncommon - Between 30% and 50% cases
Cleft palate Uncommon - Between 30% and 50% cases
Scoliosis Uncommon - Between 30% and 50% cases
Downslanted palpebral fissures Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Micrognathia and Finger syndactyly. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Cryptorchidism Global developmental delay Toe syndactyly Wide nasal bridge Protruding ear Scrotal hypoplasia Hyperlordosis Abnormality of dental enamel Macrotia Triangular face Cutaneous finger syndactyly Short stature Sparse eyelashes Hypertelorism Cutaneous syndactyly of toes Abnormality of dental morphology Epicanthus Low-set, posteriorly rotated ears Long philtrum

Rare Symptoms - Less than 30% cases


Sparse scalp hair Sparse and thin eyebrow Hypohidrosis Macrocephaly Alopecia Microdontia Wide intermamillary distance Nail dysplasia Bilateral single transverse palmar creases Pterygium Palmoplantar hyperkeratosis Fine hair Anodontia Abnormality of the philtrum Pili torti Abnormality of the dentition Dystrophic fingernails Sparse lateral eyebrow Dystrophic toenail Clinodactyly of the 5th finger Underdeveloped nasal alae Fibular aplasia Deeply set eye Bilateral cleft lip and palate Abnormality of the ureter Abnormality of the ear Absent radius Ectodermal dysplasia Round face Inguinal hernia Small hand Talipes equinovarus Midface retrusion Malar flattening Hypogonadism Seizures Ptosis Joint stiffness Broad forehead Camptodactyly of finger EEG abnormality Cleft lip Joint hyperflexibility Clinodactyly Abnormality of the kidney Sparse hair Recurrent respiratory infections Neurological speech impairment Thrombocytopenia Low-set ears Carious teeth Synophrys Cleft upper lip Oral cleft High palate Progressive hypotrichosis Short neck Highly arched eyebrow Abnormality of cardiovascular system morphology Intrauterine growth retardation Hypodontia Broad thumb Aplasia/Hypoplasia of the eyebrow Hyperhidrosis Deep-set nails Hypoplasia of the zygomatic bone Bilateral cleft lip Brittle hair Abnormal dermatoglyphics Nail dystrophy Abnormally low-pitched voice Facial asymmetry Hypotrichosis Coxa valga Thoracolumbar scoliosis Down-sloping shoulders Abnormality of the rib cage Decreased hip abduction Ulnar deviation of the hand or of fingers of the hand Camptodactyly of toe Sensorineural hearing impairment High forehead Abnormal cardiac septum morphology Hip dislocation Tetralogy of Fallot Horseshoe kidney Abnormality of the genitourinary system Submucous cleft hard palate Adducted thumb Genu varum Abnormality of coagulation Patellar dislocation Fused cervical vertebrae Aplasia of the uterus Phocomelia Aplasia/Hypoplasia of the patella Cervical ribs Aplasia/Hypoplasia of the ulna Aplasia/hypoplasia of the humerus Nevus flammeus of the forehead Tibial torsion Distal arthrogryposis Decreased muscle mass Scaling skin Broad foot Anhidrosis Anteverted ears Hearing impairment Flexion contracture Intellectual disability, mild Pectus excavatum Kyphoscoliosis Camptodactyly Retinopathy Arthrogryposis multiplex congenita Ophthalmoplegia Abnormality of the foot Talipes Bilateral talipes equinovarus Abnormality of skin pigmentation Single transverse palmar crease Bifid uvula Limitation of joint mobility Webbed neck Dandy-Walker malformation Lumbar hyperlordosis Interphalangeal joint contracture of finger Short phalanx of finger Abnormal vertebral morphology Congenital hip dislocation Knee flexion contracture Overlapping toe Thin nail Macrodontia of permanent maxillary central incisor Hypoplastic toenails Micromelia Recurrent fractures Preauricular skin tag Microretrognathia Abnormality of the voice High pitched voice Abnormality of bone mineral density Cat cry Brachydactyly Severe short stature Polyhydramnios Narrow chest Growth hormone deficiency Intellectual disability, severe Omphalocele Hydrops fetalis Short ribs Abnormality of the metacarpal bones Aplasia/Hypoplasia of the lungs Abnormality of the ulna Abnormality of tibia morphology Abnormality of femur morphology Aplasia/Hypoplasia of the abdominal wall musculature Coronal cleft vertebrae Abnormality of the humerus Severe global developmental delay Muscular hypotonia Abnormal bone ossification Abnormality of the ribs Abnormal facial shape Hepatomegaly Abnormality of the cardiovascular system Pyloric stenosis Trigonocephaly Radial deviation of finger Prolonged bleeding time Megakaryocyte dysplasia Thin upper lip vermilion Specific learning disability Ambiguous genitalia Choanal atresia Microcephaly Split hand Abnormality of the nail Generalized hirsutism Bifid scrotum Non-midline cleft lip Hypoplastic labia majora Ankyloblepharon Popliteal pterygium Nonketotic hyperglycinemia Lip pit Fibrous syngnathia Abnormality of the radius Abnormally ossified vertebrae Large hands Hypertonia Mild global developmental delay Large earlobe Hypoplasia of teeth Cranial hyperostosis Broad long bones Persistent pupillary membrane Growth delay Fifth finger distal phalanx clinodactyly 4-5 finger syndactyly 2-4 toe cutaneous syndactyly Spasticity Pes cavus Narrow nose Retrognathia Feeding difficulties in infancy Hypoplasia of penis Abnormality of the metaphysis Tall stature Hoarse voice Abnormality of the fingernails Accelerated skeletal maturation Sandal gap Deep philtrum Redundant skin Spinal cord compression Basal ganglia calcification Aplasia/Hypoplasia of the fibula Brachycephaly Severe short-limb dwarfism Hypoplastic iliac body Hypoplastic nasal septum Poorly ossified vertebrae Failure to thrive Cataract Delayed speech and language development Myopia Frontal bossing Microphthalmia Delayed skeletal maturation Narrow mouth Long nose Telecanthus Thin vermilion border Short foot Delayed eruption of teeth Microcornea Hypoplasia of the maxilla Dental malocclusion Overgrowth Short palpebral fissure Large fontanelles Dental crowding Hyperostosis Axial malrotation of the kidney



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