Cleft palate, and Pectus excavatum

Diseases related with Cleft palate and Pectus excavatum

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


Top matches:

Medium match HYPOGONADOTROPIC HYPOGONADISM 3 WITH OR WITHOUT ANOSMIA; HH3


Congenital idiopathic hypogonadotropic hypogonadism (IHH) is a disorder characterized by absent or incomplete sexual maturation by the age of 18 years, in conjunction with low levels of circulating gonadotropins and testosterone and no other abnormalities of the hypothalamic-pituitary axis. Idiopathic hypogonadotropic hypogonadism can be caused by an isolated defect in gonadotropin-releasing hormone (GNRH ) release, action, or both. Other associated nonreproductive phenotypes, such as anosmia, cleft palate, and sensorineural hearing loss, occur with variable frequency. In the presence of anosmia, idiopathic hypogonadotropic hypogonadism has been called 'Kallmann syndrome (KS),' whereas in the presence of a normal sense of smell, it has been termed 'normosmic idiopathic hypogonadotropic hypogonadism (nIHH)' (summary by Raivio et al., 2007). Because families have been found to segregate both KS and nIHH, the disorder is here referred to as 'hypogonadotropic hypogonadism with or without anosmia (HH).'For a discussion of genetic heterogeneity of autosomal hypogonadotropic hypogonadism with or without anosmia, see {147950}.

Related symptoms:

  • Seizures
  • Hearing impairment
  • Sensorineural hearing impairment
  • Cleft palate
  • Cryptorchidism


SOURCES: OMIM MENDELIAN

More info about HYPOGONADOTROPIC HYPOGONADISM 3 WITH OR WITHOUT ANOSMIA; HH3

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 EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC TYPE, 2; EDSSPD2


The features of Ehlers-Danlos syndrome spondylodysplastic type 2 include an aged appearance, developmental delay, short stature, craniofacial disproportion, generalized osteopenia, defective wound healing, hypermobile joints, hypotonic muscles, and loose but elastic skin (Okajima et al., 1999).For a discussion of genetic heterogeneity of the spondylodysplastic type of Ehlers-Danlos syndrome, see {130070}.

EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC TYPE, 2; EDSSPD2 Is also known as ehlers-danlos syndrome, progeroid type, 2, formerly|edsp2, formerly

Related symptoms:

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Cleft palate
  • Talipes equinovarus


SOURCES: OMIM MENDELIAN

More info about EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC TYPE, 2; EDSSPD2

Mendelian

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

Learn more

Other less relevant matches:

Medium match AUTOSOMAL DOMINANT MULTIPLE PTERYGIUM SYNDROME


Autosomal dominant multiple pterygium syndrome is a rare distal arthrogryposis syndrome characterized by multiple pterygia (typically involving the neck, axilla and popliteal areas), joint contractures, ptosis, camptodactyly of the hands with hypoplastic flexion creases, vertebral fusions, severe scoliosis and short stature.

AUTOSOMAL DOMINANT MULTIPLE PTERYGIUM SYNDROME Is also known as distal arthrogryposis type 8|multiple pterygium syndrome, autosomal dominant|pterygium syndrome, multiple, autosomal dominant

Related symptoms:

  • Short stature
  • Scoliosis
  • Cleft palate
  • Ptosis
  • Flexion contracture


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL DOMINANT MULTIPLE PTERYGIUM SYNDROME

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

Medium match CORPUS CALLOSUM AGENESIS-INTELLECTUAL DISABILITY-COLOBOMA-MICROGNATHIA SYNDROME


Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome is a developmental anomalies syndrome characterized by coloboma of the iris and optic nerve, facial dysmorphism (high forehead, microretrognathia, low-set ears), intellectual deficit, agenesis of the corpus callosum (ACC), sensorineural hearing loss, skeletal anomalies and short stature.

CORPUS CALLOSUM AGENESIS-INTELLECTUAL DISABILITY-COLOBOMA-MICROGNATHIA SYNDROME Is also known as mental retardation, x-linked, syndromic 28|graham-cox syndrome|mrxs28

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Scoliosis
  • Nystagmus


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about CORPUS CALLOSUM AGENESIS-INTELLECTUAL DISABILITY-COLOBOMA-MICROGNATHIA SYNDROME

Medium match EARLY-ONSET MYOPATHY-AREFLEXIA-RESPIRATORY DISTRESS-DYSPHAGIA SYNDROME


EMARDD is a congenital myopathy characterized by proximal and generalized muscle weakness, respiratory difficulties, joint contractures, and scoliosis. More variable features include cleft palate and feeding difficulties. There is variable severity: some patients become ventilator-dependent, never achieve walking, and die in childhood, whereas others have a longer and more favorable course (summary by Logan et al., 2011 and Boyden et al., 2012).

EARLY-ONSET MYOPATHY-AREFLEXIA-RESPIRATORY DISTRESS-DYSPHAGIA SYNDROME Is also known as emardd

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Scoliosis
  • Growth delay


SOURCES: ORPHANET OMIM MENDELIAN

More info about EARLY-ONSET MYOPATHY-AREFLEXIA-RESPIRATORY DISTRESS-DYSPHAGIA SYNDROME

Medium match HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL RECESSIVE, 1; PHOAR1


Primary hypertrophic osteoarthropathy is a familial disorder characterized by digital clubbing and osteoarthropathy, with variable features of pachydermia, delayed closure of the fontanels, and congenital heart disease. Secondary hypertrophic osteoarthropathy, or pulmonary hypertrophic osteoarthropathy, is a different disorder characterized by digital clubbing secondary to acquired diseases, most commonly intrathoracic neoplasm (Uppal et al., 2008).Touraine et al. (1935) recognized pachydermoperiostosis as a familial disorder with 3 clinical presentations or forms: a complete form characterized by periostosis and pachydermia; an incomplete form with bone changes but without pachydermia; and a 'forme fruste' with pachydermia and minimal skeletal changes. Genetic HeterogeneityPHOAR2 (OMIM ) is caused by mutation in the SLCO2A1 gene (OMIM ) on chromosome 3q22.1-q22.2.Families with an autosomal dominant form of primary hypertrophic osteoarthropathy have also been reported (PHOAD ).

HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL RECESSIVE, 1; PHOAR1 Is also known as pho, autosomal recessive|pachydermoperiostosis, autosomal recessive|pdp, autosomal recessive|touraine-solente-gole syndrome

Related symptoms:

  • Growth delay
  • Neoplasm
  • Cleft palate
  • Pain
  • Ptosis


SOURCES: OMIM MENDELIAN

More info about HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL RECESSIVE, 1; PHOAR1

Medium match SKIN CREASES, CONGENITAL SYMMETRIC CIRCUMFERENTIAL, 2; CSCSC2


Congenital symmetric circumferential skin creases is characterized by the folding of excess skin, which leads to ringed creases, primarily of the limbs. Affected individuals also exhibit intellectual disability, cleft palate, and dysmorphic features (summary by Isrie et al., 2015).For a discussion of genetic heterogeneity of congenital symmetric circumferential skin creases, see CSCSC1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about SKIN CREASES, CONGENITAL SYMMETRIC CIRCUMFERENTIAL, 2; CSCSC2

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

Symptoms // Phenotype % cases
Hearing impairment Common - Between 50% and 80% cases
Seizures Uncommon - Between 30% and 50% cases
Generalized hypotonia Uncommon - Between 30% and 50% cases
Short stature Uncommon - Between 30% and 50% cases
Global developmental delay 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 Pectus excavatum. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Sensorineural hearing impairment Midface retrusion Intellectual disability Osteopenia Scoliosis Arthropathy Flexion contracture Downslanted palpebral fissures Short neck Arthralgia Pectus carinatum High palate Micrognathia

Rare Symptoms - Less than 30% cases


Microcephaly Growth delay Patent ductus arteriosus Talipes equinovarus Kyphoscoliosis Flat face Blue sclerae Low-set ears Ptosis Motor delay Visual impairment Feeding difficulties Syndactyly Low-set, posteriorly rotated ears Abnormality of the pinna Nasal speech Nystagmus Broad neck Long fingers Exostoses Anteverted nares Cryptorchidism Pes planus Epiphyseal dysplasia Osteoarthritis Platyspondyly Retinal detachment Pierre-Robin sequence Glossoptosis Myopia Malar flattening Enlarged epiphyses Abnormal heart morphology Pain Neoplasm Increased endomysial connective tissue Delayed skeletal maturation Coarse facial features Hyperhidrosis Osteoporosis Diaphragmatic paralysis Arthritis Erythema Skin rash Limitation of joint mobility Large fontanelles Thickened skin Respiratory arrest Poor head control Increased connective tissue Paralysis Areflexia Hyporeflexia Respiratory failure Gastroesophageal reflux Neonatal hypotonia Facial palsy Respiratory tract infection Camptodactyly of finger Difficulty running Muscular dystrophy Generalized muscle weakness Decreased fetal movement Recurrent pneumonia Severe muscular hypotonia Palmoplantar hyperkeratosis Restrictive ventilatory defect Bulbar palsy Wormian bones Thickened calvaria Redundant skin Microtia Hypoplasia of the corpus callosum Microphthalmia Hypospadias Posteriorly rotated ears Upslanted palpebral fissure Narrow mouth Blepharophimosis Carious teeth Epicanthus Short palm Tapered finger Microcornea Wide intermamillary distance Microdontia Short palpebral fissure Scrotal hypoplasia Overfolded helix Wide nasal bridge Delayed speech and language development Patent foramen ovale Flushing Clubbing Acne Disproportionate tall stature Myopathy Growth hormone excess Joint swelling Heart block Osteolytic defects of the phalanges of the hand Hypertelorism Clubbing of fingers Seborrheic dermatitis Long clavicles Wide cranial sutures Hip pain Eczematoid dermatitis Periostosis Subperiosteal bone formation Encephalopathy Hypogonadism Respiratory distress Hip contracture Knee flexion contracture Hemivertebrae Cutaneous syndactyly Abnormal palate morphology Pterygium Abnormality of the eye Vertebral fusion Distal arthrogryposis Arthrogryposis multiplex congenita Spondylolisthesis Multiple pterygia Ataxia Spasticity Unilateral renal agenesis Anosmia Brachydactyly Elbow flexion contracture Craniosynostosis Clinodactyly Cutis laxa Prominent forehead Proptosis Cleft soft palate Vitreoretinopathy Sparse hair Hip dislocation Decreased body weight Hyperextensible skin Camptodactyly Flared metaphysis Carpal synostosis Long upper lip Advanced ossification of carpal bones Craniofacial disproportion Abnormal joint morphology High myopia Absent speech Joint laxity Dysphagia Iris coloboma Ventricular septal defect Cleft upper lip Agenesis of corpus callosum High forehead Retrognathia Coloboma Prominent nasal bridge Choanal atresia Hypotelorism Cupped ear Micropenis Optic nerve coloboma Premature osteoarthritis Failure to thrive Muscle weakness Muscular hypotonia Macrocephaly Primary amenorrhea Toe syndactyly Long philtrum Abnormality of movement Chorea Cerebral visual impairment Rotary nystagmus Ankyloglossia Cataract Depressed nasal bridge Glaucoma Abnormal metacarpal morphology Retinopathy Arachnodactyly Joint hypermobility Bifid uvula Mitral valve prolapse Spondyloepiphyseal dysplasia Hypogonadotrophic hypogonadism Abnormal vitreous humor morphology Ureterocele



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Dysarthria and Myelodysplasia, related diseases and genetic alterations Lymphoma and Short philtrum, related diseases and genetic alterations Hydrocephalus and Syndactyly, related diseases and genetic alterations Depressed nasal bridge and Micropenis, related diseases and genetic alterations

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more