Cleft palate, and Abnormality of the ribs

Diseases related with Cleft palate and Abnormality of the ribs

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


Top matches:

Low match AUTOSOMAL DOMINANT SPONDYLOCOSTAL DYSOSTOSIS


Autosomal dominant spondylocostal dysostosis is a very rare and mild form of spondylocostal dysostosis characterized by vertebral and costal segmentation defects, often with a reduction in the number of ribs.

AUTOSOMAL DOMINANT SPONDYLOCOSTAL DYSOSTOSIS Is also known as autosomal dominant spondylocostal dysplasia

Related symptoms:

  • Microcephaly
  • Scoliosis
  • Cleft palate
  • Wide nasal bridge
  • Intrauterine growth retardation


SOURCES: ORPHANET MENDELIAN

More info about AUTOSOMAL DOMINANT SPONDYLOCOSTAL DYSOSTOSIS

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 ANTLEY-BIXLER SYNDROME


Antley-Bixler syndrome is a very rare disorder characterised by craniosynostosis with midface hypoplasia, radiohumeral synostosis, femoral bowing and joint contractures.

Related symptoms:

  • Hypertelorism
  • Strabismus
  • Cleft palate
  • Downslanted palpebral fissures
  • Frontal bossing


SOURCES: ORPHANET MENDELIAN

More info about ANTLEY-BIXLER SYNDROME

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Other less relevant matches:

Low match KLIPPEL-FEIL SYNDROME 1, AUTOSOMAL DOMINANT; KFS1


Klippel-Feil syndrome (KFS) is a congenital anomaly characterized by a defect in the formation or segmentation of the cervical vertebrae, resulting in a fused appearance. The clinical triad consists of short neck, low posterior hairline, and limited neck movement, although less than 50% of patients demonstrate all 3 clinical features (Tracy et al., 2004). Genetic Heterogeneity of Klippel-Feil SyndromeAdditional forms of KFS include autosomal recessive KFS2 (OMIM ), caused by mutation in the MEOX1 gene (OMIM ) on chromosome 17q21, autosomal dominant KFS3 (OMIM ), caused by mutation in the GDF3 gene (OMIM ) on chromosome 12p13, and autosomal recessive KFS4 (OMIM ), caused by mutation in the MYO18B gene (OMIM ) on chromosome 22q12.See also MURCS association (OMIM ), in which Klippel-Feil anomaly is associated with urogenital anomalies.

KLIPPEL-FEIL SYNDROME 1, AUTOSOMAL DOMINANT; KFS1 Is also known as cervical vertebral fusion, autosomal dominant|kfs

Related symptoms:

  • Hearing impairment
  • Scoliosis
  • Sensorineural hearing impairment
  • Cleft palate
  • Macrocephaly


SOURCES: OMIM MENDELIAN

More info about KLIPPEL-FEIL SYNDROME 1, AUTOSOMAL DOMINANT; KFS1

Low match HYPOTHALAMIC HAMARTOMAS


Related symptoms:

  • Neoplasm
  • Micrognathia
  • Cleft palate
  • Depressed nasal bridge
  • Macrocephaly


SOURCES: ORPHANET OMIM MENDELIAN

More info about HYPOTHALAMIC HAMARTOMAS

Low match AURICULOCONDYLAR SYNDROME


Auriculo-condylar syndrome (ACS) presents with bilateral external ear malformations ('question mark' ears), mandibular condyle hypoplasia, microstomia, micrognathia, microglossia and facial asymmetry. Additional manifestations include hypotonia, ptosis, cleft palate, puffy cheeks, developmental delay, impaired hearing and respiratory distress.

AURICULOCONDYLAR SYNDROME Is also known as question mark ear syndrome|question mark ears syndrome

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Micrognathia
  • Sensorineural hearing impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about AURICULOCONDYLAR SYNDROME

Low match SCHNECKENBECKEN DYSPLASIA


Schneckenbecken dysplasia (or chondrodysplasia with snail-like pelvis) is a prenatally lethal spondylodysplastic dysplasia.

SCHNECKENBECKEN DYSPLASIA Is also known as chondrodysplasia with snail-like pelvis|slc35d1-cdg|chondrodysplasia, lethal neonatal, with snail-like pelvis

Related symptoms:

  • Cleft palate
  • Cryptorchidism
  • Brachydactyly
  • Macrocephaly
  • Short neck


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about SCHNECKENBECKEN DYSPLASIA

Low match ISOLATED KLIPPEL-FEIL SYNDROME


Klippel-Feil Syndrome is characterised by improper segmentation of cervical segments resulting in congenitally fused cervical vertebrae.

ISOLATED KLIPPEL-FEIL SYNDROME Is also known as congenital cervical vertebral fusion|klippel-feil sequence|congenital fused cervical segments|klippel-feil malformation|cervical vertebral fusion, autosomal recessive|kfs, autosomal recessive

Related symptoms:

  • Hearing impairment
  • Scoliosis
  • Hypertelorism
  • Sensorineural hearing impairment
  • Cleft palate


SOURCES: OMIM ORPHANET MENDELIAN

More info about ISOLATED KLIPPEL-FEIL SYNDROME

Low match SPONDYLOEPIMETAPHYSEAL DYSPLASIA CONGENITA, STRUDWICK TYPE


Spondyloepimetaphyseal dysplasia congenita, Strudwick type is characterized by disproportionate short stature from birth (with a very short trunk and shortened limbs) and skeletal abnormalities (lordosis, scoliosis, flattened vertebrae, pectus carinatum, coxa vara, clubfoot, and abnormal epiphyses or metaphyses).

SPONDYLOEPIMETAPHYSEAL DYSPLASIA CONGENITA, STRUDWICK TYPE Is also known as spondylometaphyseal dysplasia|semd, strudwick type|smed, type i|spondylometaepiphyseal dysplasia congenita, strudwick type|semdc|smd|smed, strudwick type|strudwick syndrome|dappled metaphysis syndrome

Related symptoms:

  • Intellectual disability
  • Short stature
  • Scoliosis
  • Hypertelorism
  • Cleft palate


SOURCES: OMIM ORPHANET MENDELIAN

More info about SPONDYLOEPIMETAPHYSEAL DYSPLASIA CONGENITA, STRUDWICK TYPE

Low match SHORT-RIB THORACIC DYSPLASIA 14 WITH POLYDACTYLY; SRTD14


Short-rib thoracic dysplasia (SRTD) with or without polydactyly refers to a group of autosomal recessive skeletal ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. SRTD encompasses Ellis-van Creveld syndrome (EVC) and the disorders previously designated as Jeune syndrome or asphyxiating thoracic dystrophy (ATD), short rib-polydactyly syndrome (SRPS), and Mainzer-Saldino syndrome (MZSDS). Polydactyly is variably present, and there is phenotypic overlap in the various forms of SRTDs, which differ by visceral malformation and metaphyseal appearance. Nonskeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of SRTD are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life (summary by Huber and Cormier-Daire, 2012 and Schmidts et al., 2013).There is phenotypic overlap with the cranioectodermal dysplasias (Sensenbrenner syndrome; see CED1, {218330}).For a discussion of genetic heterogeneity of short-rib thoracic dysplasia with or without polydactyly, see SRTD1 (OMIM ).

Related symptoms:

  • Generalized hypotonia
  • Cleft palate
  • Low-set ears
  • Depressed nasal bridge
  • Abnormality of the skeletal system


SOURCES: OMIM MENDELIAN

More info about SHORT-RIB THORACIC DYSPLASIA 14 WITH POLYDACTYLY; SRTD14

Top 5 symptoms//phenotypes associated to Cleft palate and Abnormality of the ribs

Symptoms // Phenotype % cases
Scoliosis Uncommon - Between 30% and 50% cases
Macrocephaly Uncommon - Between 30% and 50% cases
Short neck Uncommon - Between 30% and 50% cases
Abnormality of cardiovascular system morphology Uncommon - Between 30% and 50% cases
Micromelia Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Cleft palate and Abnormality of the ribs. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Abnormality of the pinna Narrow chest Short ribs Facial asymmetry Low-set ears Micrognathia Hypertelorism Severe short stature Hearing impairment Sensorineural hearing impairment

Rare Symptoms - Less than 30% cases


Downslanted palpebral fissures Limited neck range of motion Webbed neck Low posterior hairline Short nose Anterior rib cupping Hernia Narrow mouth Cleft upper lip Low-set, posteriorly rotated ears Respiratory distress Postaxial polydactyly Generalized hypotonia Conductive hearing impairment Polydactyly Cleft lip Ventricular septal defect Microglossia Pulmonary hypoplasia Sprengel anomaly Flat face Skeletal dysplasia Brachydactyly Edema Anteverted nares Decreased cervical spine mobility Hyperlordosis Polyhydramnios Short thorax Depressed nasal bridge Platyspondyly Abnormality of the metaphysis Cervical C2/C3 vertebral fusion Abnormal sacrum morphology Abnormal vertebral segmentation and fusion Cryptorchidism Congenital muscular torticollis Joint stiffness Hydrocephalus Micropenis Metaphyseal irregularity Choanal atresia Fused cervical vertebrae External ear malformation Vertebral fusion Hemiplegia/hemiparesis Wide intermamillary distance Abnormality of the vertebral column Spina bifida Renal hypoplasia/aplasia Unossified vertebral bodies Anal atresia Flat acetabular roof Malar flattening Midface retrusion Dolichocephaly Abnormal form of the vertebral bodies Lymphedema Spontaneous abortion Abnormality of the fingernails Accelerated skeletal maturation Disproportionate short-limb short stature Hypoplastic toenails Fibular hypoplasia Hypoplastic scapulae Ovoid vertebral bodies Abnormality of the kidney Hypoplastic ilia Diaphyseal thickening Lateral clavicle hook Vertebral hypoplasia Hypoplastic vertebral bodies Advanced ossification of carpal bones Severe hydrops fetalis Dumbbell-shaped long bone Advanced tarsal ossification Increased fibular diameter Snail-like ilia Cognitive impairment High palate Abnormal cranial nerve morphology Microcephaly Ectopic anus Coloboma Spondyloepimetaphyseal dysplasia Hypoplastic pubic bone Narrow greater sacrosciatic notches Delayed pubic bone ossification C1-C2 subluxation Club-shaped proximal femur Metaphyseal dappling Abnormality of the skeletal system Respiratory insufficiency Atrial septal defect Hyporeflexia Agenesis of corpus callosum Oral cleft Hypoplasia of the odontoid process Polymicrogyria Congenital diaphragmatic hernia Cerebellar vermis hypoplasia Hydrops fetalis Preaxial polydactyly Thoracic hypoplasia Molar tooth sign on MRI Anencephaly Upper limb undergrowth Thoracic dysplasia Retinal coloboma Aplastic clavicle Delayed epiphyseal ossification Protuberant abdomen Short sternum Pectus carinatum Abnormality of the shoulder Aplasia of the ulna Intellectual disability Short stature Myopia Gait disturbance Talipes equinovarus Kyphosis Abnormality of the crus of the helix Inguinal hernia Osteopenia Pes planus Genu valgum Disproportionate short stature Retinal detachment Limb undergrowth Osteoarthritis Abnormality of epiphysis morphology Increased bone mineral density Coxa vara Hemangioma Short long bone Genu varum Abnormality of the urinary system Spondyloepiphyseal dysplasia Short femoral neck Abnormality of the sternum Postauricular skin tag Abnormality of the outer ear Cleft helix Femoral bowing Frontal bossing Long philtrum Brachycephaly Proptosis Craniosynostosis Camptodactyly of finger Talipes Arachnodactyly Recurrent fractures Delayed cranial suture closure Underdeveloped supraorbital ridges Fibrous syngnathia Turricephaly Hypoplasia of the zygomatic bone Abnormal renal morphology Narrow pelvis bone Elbow ankylosis Microtia Intestinal malrotation Otitis media Abnormality of the genitourinary system Relative macrocephaly Unilateral renal agenesis Strabismus Lip pit Mixed hearing impairment Finger syndactyly Wide nasal bridge Intrauterine growth retardation Recurrent respiratory infections Upslanted palpebral fissure Spina bifida occulta Prominent occiput Vertebral segmentation defect Missing ribs Abnormality of female internal genitalia Posterior rib fusion Thin upper lip vermilion Toe syndactyly Nonketotic hyperglycinemia Specific learning disability Ambiguous genitalia Split hand Abnormality of the nail Generalized hirsutism Scrotal hypoplasia Bifid scrotum Non-midline cleft lip Hypoplastic labia majora Ankyloblepharon Popliteal pterygium Rocker bottom foot Stiff neck Cleft at the superior portion of the pinna Difficulty in tongue movements Atresia of the external auditory canal Cupped ear Facial cleft Glossoptosis Ankylosis Obstructive sleep apnea Stenosis of the external auditory canal Impaired mastication Hamartoma of tongue Snoring Speech articulation difficulties Dental crowding Overfolding of the superior helices Anterior open-bite malocclusion Hypoplastic superior helix Question mark ear Mandibular condyle hypoplasia Abnormality of the temporomandibular joint Hypoplasia of first ribs Mandibular condyle aplasia Periauricular skin pits Aplasia/Hypoplasia of the external ear Vein of Galen aneurysmal malformation Preauricular skin tag Dental malocclusion Bimanual synkinesia Hamartoma Posterior fossa cyst Moderate hearing impairment Abnormality of limb bone morphology Mild conductive hearing impairment Cervicomedullary schisis Neoplasm Abnormal heart morphology Hip dislocation Postaxial hand polydactyly Renal dysplasia Occipital encephalocele Median cleft lip Round face Anterior hypopituitarism Glioma Hypothalamic hamartoma Global developmental delay Ptosis Feeding difficulties Posteriorly rotated ears Apnea Protruding ear Full cheeks Bifid uvula Short upper lip



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