Cleft palate, and Pectus carinatum

Diseases related with Cleft palate and Pectus carinatum

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


Top matches:

Medium match OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT; OSMEDA


Otospondylomegaepiphyseal dysplasia (OSMED) is characterized by sensorineural deafness and relatively short extremities with abnormally large knees and elbows but normal total body length. The diagnostic radiologic findings are the enlarged epiphyses combined with a moderate platyspondyly, most marked in the lower thoracic region. There are no ocular abnormalities. Patients have typical facial features, including midface hypoplasia (summary by Giedion et al., 1982). Some patients have osteoarthritis (Brunner et al., 1994).

OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT; OSMEDA Is also known as osmed, heterozygous|weissenbacher-zweymuller syndrome|pierre robin syndrome with fetal chondrodysplasia stickler syndrome, nonocular type, formerly|stl3, formerly|stickler syndrome, type iii, formerly|wzs

Related symptoms:

  • Hearing impairment
  • Micrognathia
  • Sensorineural hearing impairment
  • Cleft palate
  • Myopia


SOURCES: OMIM MENDELIAN

More info about OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT; OSMEDA

Medium match TELO2-RELATED INTELLECTUAL DISABILITY-NEURODEVELOPMENTAL DISORDER


TELO2-RELATED INTELLECTUAL DISABILITY-NEURODEVELOPMENTAL DISORDER Is also known as you-hoover-fong syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about TELO2-RELATED INTELLECTUAL DISABILITY-NEURODEVELOPMENTAL DISORDER

Medium match STICKLER SYNDROME TYPE 3


Stickler syndrome type 3 is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by craniofacial dysmorphism (midface hypoplasia, depressed nasal bridge, small nose with upturned tip, cleft palate, Pierre Robin sequence), bilateral, pronounced sensorineural hearing loss, and skeletal/joint anomalies (including spondyloepiphyseal dysplasia, arthralgia/arthropathy), in the absence of ocular abnormalities.

STICKLER SYNDROME TYPE 3 Is also known as stickler syndrome, vitreous type 2|stickler syndrome, beaded vitreous type|stickler syndrome, non-ocular type

Related symptoms:

  • Hearing impairment
  • Micrognathia
  • Sensorineural hearing impairment
  • Cleft palate
  • Cataract


SOURCES: OMIM ORPHANET MENDELIAN

More info about STICKLER SYNDROME TYPE 3

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Other less relevant matches:

Medium 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

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 X-LINKED INTELLECTUAL DISABILITY, SNYDER TYPE


X-linked intellectual disability, Snyder type is a rare X-linked intellectual disability syndrome characterized by hypotonia, asthenic build with diminished muscle mass, severe generalized psychomotor delay, unsteady gait and moderate to severe intellectual disability, as well as a long, thin, asymmetrical face with prominent lower lip, long fingers and toes and nasal, dysarthric or absent speech. Bone abnormalities (e.g., osteoporosis, kyphoscoliosis, fractures, joint contractures) are also characteristic. Myoclonic, or myoclonic-like, seizures and renal abnormalities have been associated in some patients.

X-LINKED INTELLECTUAL DISABILITY, SNYDER TYPE Is also known as snyder-robinson syndrome|snyder-robinson mental retardation syndrome|srs

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about X-LINKED INTELLECTUAL DISABILITY, SNYDER TYPE

Medium match OPITZ GBBB SYNDROME, TYPE I; GBBB1


The Opitz GBBB syndrome is a congenital midline malformation syndrome characterized by hypertelorism, hypospadias, cleft lip/palate, laryngotracheoesophageal abnormalities, imperforate anus, developmental delay, and cardiac defects (So et al., 2005).This disorder was first reported as 2 separate entities, BBB syndrome and G syndrome; subsequent reports of families in which the BBB and G syndromes segregated within a single kindred suggested that they represent a single entity. Genetic HeterogeneitySee also GBBB2 (OMIM ), caused by mutation in the SPECC1L gene (OMIM ) on chromosome 22q11.

OPITZ GBBB SYNDROME, TYPE I; GBBB1 Is also known as opitz bbbg syndrome, type i|opitz syndrome|os|opitz syndrome, x-linked|ogs1|hypertelorism-hypospadias syndrome|osx|telecanthus-hypospadias syndrome|opitz gbbb syndrome, x-linked|bbbg1|hypertelorism with esophageal abnormality and hypospadias|opitz-g syndr

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hypertelorism
  • Sensorineural hearing impairment
  • Cleft palate


SOURCES: OMIM ORPHANET MENDELIAN

More info about OPITZ GBBB SYNDROME, TYPE I; GBBB1

Medium match SHORT-RIB THORACIC DYSPLASIA 6 WITH OR WITHOUT POLYDACTYLY; SRTD6


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, see SRTD1 (OMIM ).

SHORT-RIB THORACIC DYSPLASIA 6 WITH OR WITHOUT POLYDACTYLY; SRTD6 Is also known as majewski syndrome|short rib-polydactyly syndrome, type ii|srps2a|srps, type ii|polydactyly with neonatal chondrodystrophy, type ii|short rib-polydactyly syndrome, type iia

Related symptoms:

  • Short stature
  • Cleft palate
  • Delayed speech and language development
  • Motor delay
  • Brachydactyly


SOURCES: OMIM MENDELIAN

More info about SHORT-RIB THORACIC DYSPLASIA 6 WITH OR WITHOUT POLYDACTYLY; SRTD6

Medium match FIBROCHONDROGENESIS


Fibrochondrogenesis is a rare, neonatally lethal, rhizomelic chondrodysplasia. Eleven cases have been reported. The face is distinctive and characterized by protuberant eyes, flat midface, flat small nose with anteverted nares and a small mouth with long upper lip. Cleft palate, micrognathia and bifid tongue can occur. The limbs show marked shortness of all segments with relatively normal hands and feet. No internal anomalies other than omphalocele have been reported. Transmission is probably autosomal recessive. Recurrence in a consanguineous family (affecting both sexes) and concordance of affected male twins have been reported.

Related symptoms:

  • Short stature
  • Hearing impairment
  • Hypertelorism
  • Micrognathia
  • Cleft palate


SOURCES: OMIM ORPHANET MENDELIAN

More info about FIBROCHONDROGENESIS

Medium match SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA; SEDC


Spondyloepiphyseal dysplasia congenita is an autosomal dominant chondrodysplasia characterized by disproportionate short stature (short trunk), abnormal epiphyses, and flattened vertebral bodies. Skeletal features are manifested at birth and evolve with time. Other features include myopia and/or retinal degeneration with retinal detachment and cleft palate (summary by Anderson et al., 1990).

SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA; SEDC Is also known as sed congenita|spondyloepiphyseal dysplasia, congenital type

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Scoliosis


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA; SEDC

Top 5 symptoms//phenotypes associated to Cleft palate and Pectus carinatum

Symptoms // Phenotype % cases
Myopia Common - Between 50% and 80% cases
Anteverted nares Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
Hearing impairment Uncommon - Between 30% and 50% cases
Hypertelorism Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Cleft palate and Pectus carinatum. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Pectus excavatum Brachydactyly Platyspondyly Intellectual disability Osteoarthritis Severe short stature Global developmental delay Syndactyly High myopia Malar flattening Sensorineural hearing impairment Retinal detachment Midface retrusion Respiratory insufficiency Cataract Long philtrum Spondyloepiphyseal dysplasia Gait disturbance Skeletal dysplasia Talipes equinovarus Abnormality of the metaphysis Hernia Limb undergrowth Flat face Narrow chest Micromelia Intestinal malrotation Micrognathia Exostoses Generalized hypotonia Low-set ears Smooth philtrum

Rare Symptoms - Less than 30% cases


Downslanted palpebral fissures Genu varum Short long bone Short ribs Slender finger Cryptorchidism Coxa vara Muscular hypotonia Short thorax Abnormality of epiphysis morphology High palate Delayed speech and language development Brachycephaly Narrow mouth Short femoral neck Hypoplasia of the odontoid process Disproportionate short stature Wide nasal bridge Thin upper lip vermilion Abnormality of the pinna Genu valgum Gastroesophageal reflux Frontal bossing Clinodactyly of the 5th finger Short nose Short neck Protuberant abdomen Ventricular septal defect Delayed pubic bone ossification Narrow greater sacrosciatic notches Anterior rib cupping Camptodactyly Abnormal heart morphology Synophrys Ptosis Hyperlordosis Rhizomelia Polydactyly Pulmonary hypoplasia Abnormality of movement Kyphoscoliosis Clinodactyly Absent speech Cleft lip Microcephaly Glaucoma Seizures Vitreoretinopathy Pierre-Robin sequence Glossoptosis Arthropathy Arthralgia Depressed nasal bridge Nystagmus Abnormal form of the vertebral bodies Cleft upper lip Arachnodactyly Scoliosis Oral cleft Hydrops fetalis Respiratory distress Kyphosis Bifid uvula Ambiguous genitalia Long fingers Hydrocephalus Hepatic fibrosis Pancreatic fibrosis Shortening of the tibia Polysyndactyly of hallux Macrocephaly Postaxial polysyndactyly of foot Hypoplasia of the epiglottis Disproportionate shortening of the tibia Motor delay Proptosis Posterior pharyngeal cleft Camptodactyly of finger Short palm Small hand Short foot Round face Abnormality of the ribs Atrial septal defect Cerebellar vermis hypoplasia Hamartoma of tongue Short tibia Mesomelia Pachygyria Median cleft lip Postaxial hand polydactyly Renal cyst Microglossia Retinal dystrophy Preaxial hand polydactyly Astigmatism Hypermetropia Tricuspid regurgitation Horizontal ribs Polycystic kidney dysplasia Craniosynostosis Micropenis Abnormality of the genital system Thoracic dysplasia Dilation of lateral ventricles Abnormality of the larynx Spondylometaphyseal dysplasia Lateral clavicle hook Median cleft lip and palate Edema Posterior vertebral hypoplasia Omphalocele Back pain Apnea Respiratory tract infection Autoimmunity Broad forehead Hip dislocation Paresthesia Retinal degeneration Limitation of joint mobility Waddling gait Lumbar hyperlordosis Abnormal lung morphology Sleep apnea Growth abnormality Bowing of the legs Congestive heart failure Vestibular dysfunction Restrictive ventilatory defect Progressive sensorineural hearing impairment Barrel-shaped chest Ovoid vertebral bodies Myelopathy Limited elbow movement Flattened epiphysis Cervical myelopathy Limited hip movement Retinoschisis Sciatica Neonatal short-trunk short stature Limitation of knee mobility Arthritis Hypertension Wide anterior fontanel Broad ribs Joint contracture of the hand Plagiocephaly Patent foramen ovale Hypoplastic toenails Thoracic hypoplasia Thin ribs Fibular hypoplasia Megalocornea Bell-shaped thorax Hearing abnormality Hypoplastic scapulae Hypoplastic fingernail Bifid tongue Metaphyseal cupping Pain Abnormal diaphysis morphology Hypoplastic ischia Long clavicles Broad long bones Thin clavicles Posterior rib cupping Dumbbell-shaped long bone Broad ischia Pear-shaped vertebrae Widely patent coronal suture Exstrophy Widely patent sagittal suture Growth delay Muscle weakness Osteoma Long hallux Recurrent aspiration pneumonia Radioulnar synostosis Spondyloepimetaphyseal dysplasia Hypoplastic pubic bone C1-C2 subluxation Club-shaped proximal femur Metaphyseal dappling Upslanted palpebral fissure Hyperactivity Attention deficit hyperactivity disorder Thick eyebrow Highly arched eyebrow Hemivertebrae Finger clinodactyly Cutis marmorata Abnormality of the sternum Submucous cleft hard palate Vertebral clefting Prominent eyelashes Abnormal facial shape Cognitive impairment Dysarthria Myoclonus Osteoporosis Mandibular prognathia Difficulty walking Intellectual disability, moderate Short philtrum Delayed epiphyseal ossification Metaphyseal irregularity Facial asymmetry Chorea Abnormality of the eye Epiphyseal dysplasia Abnormal joint morphology Cleft soft palate Premature osteoarthritis Enlarged epiphyses Ataxia Spasticity Feeding difficulties Visual impairment Joint laxity Toe syndactyly Blue sclerae Abnormality of the urinary system Cerebral visual impairment Rotary nystagmus Ankyloglossia Retinopathy Joint hypermobility Mitral valve prolapse Abnormal vitreous humor morphology Abnormal metacarpal morphology Inguinal hernia Osteopenia Pes planus Increased bone mineral density Hemangioma Prominent nasal bridge Unsteady gait Bladder exstrophy Increased number of teeth Pneumonia Agenesis of corpus callosum Posteriorly rotated ears Prominent forehead Telecanthus Anal atresia Hypodontia Congenital diaphragmatic hernia Recurrent urinary tract infections Large fontanelles Aspiration Abnormality of the voice Prominent metopic ridge Hypospadias Double outlet right ventricle Bilateral cleft lip Aspiration pneumonia Bilateral cleft lip and palate Hydrocele testis Widow's peak Pulmonary artery atresia Volvulus Abnormality of the pharynx Chylothorax Right aortic arch Abnormality of the nasopharynx Intestinal lymphangiectasia Patent ductus arteriosus Abnormality of cardiovascular system morphology Bulbous nose Narrow face High, narrow palate Recurrent fractures Postural instability Generalized myoclonic seizures Webbed neck Wide intermamillary distance Intellectual disability, profound Thick lower lip vermilion Broad-based gait Tall stature Dental crowding Hyperpigmentation of the skin Spontaneous abortion Dysphagia Nasal speech Sparse eyebrow Decreased muscle mass Disproportionate tall stature Epileptic spasms Slender build Hyperextensibility of the finger joints Small earlobe Narrow palm Focal motor seizures Long palm Asymmetry of the ears Epicanthus Delayed calcaneal ossification



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