Cleft palate, and Single transverse palmar crease

Diseases related with Cleft palate and Single transverse palmar crease

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


Top matches:

Medium match OROFACIAL CLEFT 15; OFC15


Related symptoms:

  • Hypertelorism
  • Abnormal facial shape
  • Cryptorchidism
  • Low-set ears
  • Epicanthus


SOURCES: OMIM MENDELIAN

More info about OROFACIAL CLEFT 15; OFC15

Medium match BRACHYCEPHALY, TRICHOMEGALY, AND DEVELOPMENTAL DELAY; BTDD


BTDD is an autosomal dominant disorder characterized by brachycephaly, trichomegaly, and developmental delay. Although it is caused by dysfunction of the ribosome, patients do not have anemia (summary by Paolini et al., 2017).

BRACHYCEPHALY, TRICHOMEGALY, AND DEVELOPMENTAL DELAY; BTDD Is also known as macinnes syndrome|mcins

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM MENDELIAN

More info about BRACHYCEPHALY, TRICHOMEGALY, AND DEVELOPMENTAL DELAY; BTDD

Medium match DIARRHEA 3, SECRETORY SODIUM, CONGENITAL, WITH OR WITHOUT OTHER CONGENITAL ANOMALIES; DIAR3


DIARRHEA 3, SECRETORY SODIUM, CONGENITAL, WITH OR WITHOUT OTHER CONGENITAL ANOMALIES; DIAR3 Is also known as diarrhea 3, secretory sodium, congenital, syndromic|csd|sodium diarrhea, congenital

Related symptoms:

  • Short stature
  • Hypertelorism
  • Micrognathia
  • Cleft palate
  • Low-set ears


SOURCES: OMIM MENDELIAN

More info about DIARRHEA 3, SECRETORY SODIUM, CONGENITAL, WITH OR WITHOUT OTHER CONGENITAL ANOMALIES; DIAR3

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Other less relevant matches:

Medium 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

Medium match ROSSELLI-GULIENETTI SYNDROME


Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about ROSSELLI-GULIENETTI SYNDROME

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 MICROPHTHALMIA WITH LIMB ANOMALIES; MLA


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

Medium match ACROFACIAL DYSOSTOSIS, RODRÍGUEZ TYPE


Acrofacial dysostosis Rodriguez type is a multiple malformative syndrome in which mandibulofacial dysostosis and severe limb reduction defects are associated with complex malformations of different organs and systems especially the CNS, urogenital tract, heart, and lungs. The mandibulofacial defect, characterized by extremely severe microretrognathism and cleft palate, causes death by respiratory distress. Limb reduction is severe and includes shoulder and pelvis hypoplasia, phocomelia with humerus hypoplasia, absent radius and ulna, complete absence of long bones of the legs, and various hand anomalies, predominantly preaxial reduction (absent thumbs). Other features include CNS malformations (agenesis of corpus callosum and acqueductal stenosis), lung anomalies (absent lung lobulation), complex cardiac malformations, and unicornis uterus. These infants also show facial dysmorphism and ear anomalies. The condition is a rare with an autosomal recessive mode of inheritance. The prognosis is poor and this condition leads to death in utero or shortly after birth.

ACROFACIAL DYSOSTOSIS, RODRÍGUEZ TYPE Is also known as rodriguez lethal acrofacial dysostosis syndrome

Related symptoms:

  • Short stature
  • Hypertelorism
  • Micrognathia
  • Cleft palate
  • Low-set ears


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about ACROFACIAL DYSOSTOSIS, RODRÍGUEZ TYPE

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 BLEPHAROPHIMOSIS-INTELLECTUAL DISABILITY SYNDROME, SBBYS TYPE


Blepharophimosis-intellectual disability syndrome, SBBYS type is characterised by the association of congenital hypothyroidism, facial dysmorphism (microcephaly, blepharophimosis, a bulbous nose, thin lip, low-set ears and micrognathia), postaxial polydactyly and severe intellectual deficit. Less than 20 cases have been reported so far. Cryptorchidism is present in affected males. Some patients also have cardiac anomalies (interventricular communication), hypotonia and growth delay. Autosomal recessive inheritance has been suggested.

BLEPHAROPHIMOSIS-INTELLECTUAL DISABILITY SYNDROME, SBBYS TYPE Is also known as say-barber-biesecker-young-simpson syndrome|sbbyss|hypothyroidism-dysmorphism-postaxial polydactyly-intellectual disability syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Microcephaly
  • Growth delay


SOURCES: ORPHANET MENDELIAN

More info about BLEPHAROPHIMOSIS-INTELLECTUAL DISABILITY SYNDROME, SBBYS TYPE

Top 5 symptoms//phenotypes associated to Cleft palate and Single transverse palmar crease

Symptoms // Phenotype % cases
Micrognathia Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Low-set ears Common - Between 50% and 80% cases
Syndactyly Uncommon - Between 30% and 50% cases
Wide nasal bridge Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Cleft palate and Single transverse palmar crease. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Short stature Downslanted palpebral fissures Bifid uvula Finger syndactyly Hypertelorism Toe syndactyly Cleft lip Bilateral single transverse palmar creases Global developmental delay Cryptorchidism Protruding ear Highly arched eyebrow Macrotia Seizures Malar flattening Recurrent respiratory infections Hyperlordosis Cleft upper lip Cutaneous finger syndactyly Talipes equinovarus Posteriorly rotated ears High palate Clinodactyly of the 5th finger Microcephaly Midface retrusion Sparse eyelashes Bilateral cleft lip and palate Epicanthus Hearing impairment

Rare Symptoms - Less than 30% cases


Nail dysplasia Abnormality of the ear Abnormality of dental morphology Palmoplantar hyperkeratosis Scrotal hypoplasia Abnormality of dental enamel Sparse and thin eyebrow Hypohidrosis Microdontia Blepharophimosis Triangular face Ectodermal dysplasia Anodontia Hypodontia Oral cleft Bulbous nose Synophrys Carious teeth Neurological speech impairment Sparse hair EEG abnormality Hypogonadism Abnormality of the ureter Dystrophic toenail Short palpebral fissure Abnormality of cardiovascular system morphology Growth delay Oligodactyly Submucous cleft hard palate Fibular hypoplasia Overlapping toe Abnormal vertebral morphology Hand oligodactyly Anemia Webbed neck Intrauterine growth retardation Camptodactyly of finger Sparse lateral eyebrow Deeply set eye Prominent nose Short neck Retrognathia Pterygium Progressive hypotrichosis Abnormality of the philtrum Cutaneous syndactyly of toes Pili torti Bilateral cleft lip Dystrophic fingernails Wide intermamillary distance Polyhydramnios Depressed nasal bridge Intellectual disability, mild Brittle hair Anal atresia Narrow mouth Prominent occiput Metacarpal synostosis Camptodactyly of 2nd-5th fingers Fused fourth and fifth metacarpals Sloping forehead Clinodactyly Aplasia/Hypoplasia of the ulna Specific learning disability Long nose Coloboma Microtia Joint hyperflexibility Short philtrum Prominent nasal bridge Hypothyroidism Severe short stature Patent ductus arteriosus Foot oligodactyly Atrioventricular canal defect Flared nostrils Deep philtrum Neoplasm of the tongue Postaxial hand polydactyly Abnormality of the cardiovascular system Split hand Abnormality of the hair Thyroid dysgenesis Horseshoe kidney Hemivertebrae Sandal gap Anophthalmia Thin skin Tibial bowing Thyroid agenesis Ectopic thyroid Thyroid hypoplasia Postaxial foot polydactyly Abnormal nasolacrimal system morphology Short femur Abnormal renal morphology Abnormality of the antihelix Abnormal form of the vertebral bodies Microretrognathia Wide anterior fontanel Photophobia Abnormality of the fingernails High myopia Hypoplasia of penis Convex nasal ridge Congenital cataract Severe global developmental delay Joint stiffness Low-set, posteriorly rotated ears Myopia Polycystic ovaries Abnormality of the uterus Visual impairment Cataract Strabismus 11 pairs of ribs Aqueductal stenosis Absent forearm Phocomelia Deep-set nails Short tibia Hypoplastic toenails Arrhinencephaly Nuclear cataract Renal hypoplasia/aplasia Abnormality of pelvic girdle bone morphology Atrial septal defect Radioulnar synostosis Ventricular septal defect Feeding difficulties Muscular hypotonia Failure to thrive Pulverulent cataract Triphalangeal thumb Sprengel anomaly Ectopic anus Supernumerary nipple Abnormality of the elbow Short humerus Increased serum ferritin Iron deficiency anemia Microcytic anemia Aplasia/Hypoplasia of the radius Non-midline cleft lip Hip dislocation Lumbar hyperlordosis Postnatal growth retardation Abnormality of digit Intestinal malrotation Gastrointestinal hemorrhage Choanal atresia Abnormal intestine morphology Cutis laxa Hyponatremia Keratitis Preauricular pit Mild short stature Corneal erosion Metabolic acidosis Optic nerve coloboma Rectovaginal fistula Villous atrophy Ureteral duplication Protracted diarrhea Secretory diarrhea Intractable diarrhea Ectropion of lower eyelids High anterior hairline Abdominal distention Euryblepharon Alopecia Long eyelashes Motor delay Brachycephaly Autism Conductive hearing impairment Abnormality of the pinna Autistic behavior Thick eyebrow Generalized hypotonia Hyponasal speech Flat occiput Abnormality of the liver Increased number of teeth Bilateral conductive hearing impairment Palate fistula Agenesis of lateral incisor Macrocephaly Vomiting Diarrhea Bilateral cleft palate Abnormality of metabolism/homeostasis Acidosis Abnormality of the dentition Hyperhidrosis Polydactyly Decreased muscle mass Talipes Abnormality of skin pigmentation Limitation of joint mobility Dandy-Walker malformation Interphalangeal joint contracture of finger Short phalanx of finger Congenital hip dislocation Knee flexion contracture Bilateral talipes equinovarus 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 Frontal bossing Short nose Microphthalmia Prominent forehead Facial asymmetry Ophthalmoplegia Ectropion Hypotrichosis Abnormality of the kidney Sparse eyebrow Nail dystrophy Sparse scalp hair Upslanted palpebral fissure Abnormal dermatoglyphics Aplasia/Hypoplasia of the eyebrow Hernia Hypoplasia of the zygomatic bone Scaling skin Arthrogryposis multiplex congenita Anhidrosis Anteverted ears Scoliosis Ptosis Flexion contracture Pectus excavatum Abnormal facial shape Kyphoscoliosis Camptodactyly Retinopathy Abnormality of the cheek



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