Cleft palate, and Clinodactyly of the 5th finger

Diseases related with Cleft palate and Clinodactyly of the 5th finger

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


Top matches:

Medium match MULTIPLE EPIPHYSEAL DYSPLASIA TYPE 4


Multiple epiphyseal dysplasia type 4 is a multiple epiphyseal dysplasia with a late-childhood onset, characterized by joint pain involving hips, knees, wrists, and fingers with occasional limitation of joint movements, deformity of hands, feet, and knees (club foot, clinodactyly, brachydactyly), scoliosis and slightly reduced adult height. Radiographs display flat epiphyses with early arthritis of the hip, and double-layered patella. Multiple epiphyseal dysplasia type 4 follows an autosomal recessive mode of transmission. The disease is allelic to diastrophic dwarfism, atelosteogenesis type 2 and achondrogenesis type 1B with whom it forms a clinical continuum.

MULTIPLE EPIPHYSEAL DYSPLASIA TYPE 4 Is also known as med4|multiple epiphyseal dysplasia, autosomal recessive|rmed|edm4|polyepiphyseal dysplasia type 4|multiple epiphyseal dysplasia with bilayered patellae|autosomal recessive multiple epiphyseal dysplasia|multiple epiphyseal dysplasia with clubfoot

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Scoliosis
  • Muscular hypotonia
  • Cleft palate


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about MULTIPLE EPIPHYSEAL DYSPLASIA TYPE 4

Medium match RICHIERI COSTA-PEREIRA SYNDROME


Richieri Costa-Pereira syndrome is characterized by short stature, Robin sequence, cleft mandible, pre/postaxial hand anomalies (including hypoplastic thumbs), and clubfoot. It has been described in 14 Brazilian families and in one unrelated French patient. Prominent low set ears and a highly arched palate were also observed. Transmission is autosomal recessive.

RICHIERI COSTA-PEREIRA SYNDROME Is also known as short stature-pierre robin syndrome-cleft mandible-hand anomalies clubfoot syndrome|richieri-costa-pereira syndrome|rcps|short stature-pierre robin sequence-cleft mandible-hand anomalies clubfoot syndrome

Related symptoms:

  • Global developmental delay
  • Short stature
  • Micrognathia
  • Cleft palate
  • Low-set ears


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about RICHIERI COSTA-PEREIRA SYNDROME

Medium match LIMB-MAMMARY SYNDROME


Limb-mammary syndrome (LMS) is a rare disease belonging to the group of ectodermal dysplasias.

LIMB-MAMMARY SYNDROME Is also known as lms

Related symptoms:

  • Cleft palate
  • Syndactyly
  • Hypogonadism
  • Camptodactyly
  • Hypodontia


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about LIMB-MAMMARY SYNDROME

Mendelian

Too many results?
We can help you with your rare disease diagnosis.

Learn more

Other less relevant matches:

Medium match CORNELIA DE LANGE SYNDROME 4; CDLS4


Related symptoms:

  • Global developmental delay
  • Short stature
  • Microcephaly
  • Cleft palate
  • Ptosis


SOURCES: OMIM MENDELIAN

More info about CORNELIA DE LANGE SYNDROME 4; CDLS4

Medium 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

Medium 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

Medium 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

Medium 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

Medium match CORNELIA DE LANGE SYNDROME 3; CDLS3


Cornelia de Lange syndrome is a multisystem developmental disorder characterized by distinctive facial dysmorphism, pre- and postnatal growth failure, delayed psychomotor development and intellectual disability, hypertrichosis, and sometimes distal limb malformations (summary by Gil-Rodriguez et al., 2015).For a phenotypic description and a discussion of genetic heterogeneity of Cornelia de Lange syndrome, see {122470}.

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about CORNELIA DE LANGE SYNDROME 3; CDLS3

Medium 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

Top 5 symptoms//phenotypes associated to Cleft palate and Clinodactyly of the 5th finger

Symptoms // Phenotype % cases
Short stature Common - Between 50% and 80% cases
Micrognathia Common - Between 50% and 80% cases
Clinodactyly Uncommon - Between 30% and 50% cases
Hearing impairment Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Other less frequent symptoms

Patients with Cleft palate and Clinodactyly of the 5th finger. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


High palate Synophrys Talipes equinovarus Bifid uvula Brachydactyly Thin upper lip vermilion Global developmental delay Short neck Generalized hypotonia Downslanted palpebral fissures Finger clinodactyly Webbed neck Syndactyly Bilateral talipes equinovarus Microcephaly Ptosis Anteverted nares Abnormal facial shape Long philtrum Low-set, posteriorly rotated ears Scoliosis Broad forehead

Rare Symptoms - Less than 30% cases


Pierre-Robin sequence Finger syndactyly Short phalanx of finger Conductive hearing impairment Highly arched eyebrow Talipes Thin vermilion border Proximal placement of thumb Cutis marmorata Pulmonic stenosis Thick eyebrow Dental crowding Submucous cleft hard palate Pectus excavatum Camptodactyly Small hand Cryptorchidism Short metacarpal Gastroesophageal reflux Smooth philtrum Sensorineural hearing impairment Short nose Strabismus Wide nasal bridge Hip subluxation Cataract Anemia Flexion contracture Hip dislocation Abnormal cardiac septum morphology Myopia Low-set ears Midface retrusion Narrow mouth Protruding ear Intrauterine growth retardation Hypertelorism Visual impairment Absent radius Mild conductive hearing impairment Abnormality of coagulation Broad distal phalanx of finger Patellar dislocation Elliptocytosis Large forehead Cleft hard palate Nevus flammeus of the forehead Severe sensorineural hearing impairment Patent ductus arteriosus Tibial torsion Axial malrotation of the kidney Aplasia/Hypoplasia of the ulna Delayed speech and language development Cervical ribs Aplasia/Hypoplasia of the patella Phocomelia Fibular aplasia Malar flattening Aplasia of the uterus Hydronephrosis Fused cervical vertebrae Joint hypermobility Flat face Delayed eruption of teeth Esotropia Aplasia/hypoplasia of the humerus Renal dysplasia Nephrocalcinosis Hypercalciuria Patent foramen ovale Mixed hearing impairment Pes planus Bilateral single transverse palmar creases Abnormality of cardiovascular system morphology Palpitations Low anterior hairline Thick hair Limited elbow movement Abnormality of the skeletal system Ventricular septal defect Arrhythmia Abnormal heart morphology Delayed skeletal maturation Posteriorly rotated ears Osteopenia Apnea Tachycardia Everted lower lip vermilion Narrow forehead Short toe Hypertrichosis 11 pairs of ribs Prominent sternum Anterior open bite Perimembranous ventricular septal defect Short 5th metacarpal Spondylolisthesis Wolff-Parkinson-White syndrome Supraventricular tachycardia Spina bifida occulta Obstructive sleep apnea Proportionate short stature Transposition of the great arteries Sleep apnea Infantile muscular hypotonia Sandal gap Long eyelashes Short foot Macrotia High myopia Microcytic anemia Non-midline cleft lip Hypoplastic toenails Polycystic ovaries Abnormality of the fingernails Adducted thumb Hypoplasia of penis Increased serum ferritin Convex nasal ridge Anal atresia Congenital cataract Severe global developmental delay Joint stiffness Photophobia Iron deficiency anemia Abnormality of the elbow Downturned corners of mouth Brachycephaly Hirsutism Bulbous nose Poor speech Prominent nasal bridge Postnatal growth retardation Feeding difficulties in infancy Behavioral abnormality Ectopic anus Abnormality of the dentition Depressed nasal bridge Cognitive impairment Growth delay Pulverulent cataract Nuclear cataract Genu varum Interphalangeal joint contracture of finger Abnormality of the genitourinary system Hypoplasia of the epiglottis Hoarse voice Microretrognathia Abnormality of the outer ear Hypoplasia of the radius Abnormality of the hand Abnormality of the voice Hypoplasia of the ulna Mesomelia Fibular hypoplasia Short tibia Abnormality of the larynx Acetabular dysplasia Radial deviation of the hand Limb undergrowth Absent foot Tibial deviation of toes Aplasia of the epiglottis Agenesis of mandibular central incisor Pansynostosis Abnormality of the aryepiglottic fold Cleft lower alveolar ridge Cleft mandible Hypogonadism Hypodontia Ectodermal dysplasia Nail dysplasia Short thumb Prominent nose Primary amenorrhea Spondyloepiphyseal dysplasia Muscular hypotonia Pain Gait disturbance Skeletal dysplasia Arthralgia Rigidity Arthritis Hip dysplasia Osteoarthritis Growth abnormality Epiphyseal dysplasia Metaphyseal irregularity Short middle phalanx of finger Respiratory distress Mild short stature Metatarsus adductus Short finger Multiple epiphyseal dysplasia Abnormality of the knee Flat capital femoral epiphysis Knee pain Limited elbow flexion Hypoplasia of the femoral head Abnormality of the patella Double-layered patella Feeding difficulties Amenorrhea Split hand Coxa valga Cutaneous finger syndactyly Abnormality of skin pigmentation Single transverse palmar crease Triangular face Limitation of joint mobility Dandy-Walker malformation Lumbar hyperlordosis Abnormal vertebral morphology Congenital hip dislocation Knee flexion contracture Pterygium Overlapping toe Decreased muscle mass Distal arthrogryposis Abnormality of the foot 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 Thrombocytopenia High forehead Abnormality of the kidney Tetralogy of Fallot Broad thumb Horseshoe kidney Facial asymmetry Ophthalmoplegia Hypohidrosis Intestinal malrotation Joint contracture of the hand Hypergonadotropic hypogonadism Hallux valgus Gonadal dysgenesis Hypoplastic nipples Ectrodactyly Split foot Lacrimal duct atresia Upslanted palpebral fissure Hyperactivity Attention deficit hyperactivity disorder Pectus carinatum Hemivertebrae Arthrogryposis multiplex congenita Radioulnar synostosis Short femoral neck Slender finger Exostoses Vertebral clefting Prominent eyelashes Epicanthus Intellectual disability, mild Kyphoscoliosis Deeply set eye Hyperlordosis Retinopathy Camptodactyly of finger Paroxysmal supraventricular tachycardia



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Macrocephaly and Arrhythmia, related diseases and genetic alterations Myopathy and Hepatitis, related diseases and genetic alterations Cryptorchidism and Meningitis, related diseases and genetic alterations Cognitive impairment and Spinal muscular atrophy, related diseases and genetic alterations

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more