Cleft palate, and Flexion contracture

Diseases related with Cleft palate and Flexion contracture

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


Top matches:

Low match OROFACIAL CLEFT 5; OFC5


OROFACIAL CLEFT 5; OFC5 Is also known as cleft lip with or without cleft palate, nonsyndromic, 5

Related symptoms:

  • Cleft palate
  • Cleft upper lip


SOURCES: OMIM MESH MENDELIAN

More info about OROFACIAL CLEFT 5; OFC5

Low match OROFACIAL CLEFT 6, SUSCEPTIBILITY TO; OFC6


OROFACIAL CLEFT 6, SUSCEPTIBILITY TO; OFC6 Is also known as cleft lip with or without cleft palate, nonsyndromic, 6

Related symptoms:

  • Cleft palate
  • Cleft upper lip


SOURCES: OMIM MENDELIAN

More info about OROFACIAL CLEFT 6, SUSCEPTIBILITY TO; OFC6

Low match LETHAL CONGENITAL CONTRACTURE SYNDROME 8; LCCS8


Lethal congenital contracture syndrome-8, an axoglial form of arthrogryposis multiplex congenita, is characterized by congenital distal joint contractures, reduced fetal movements, and severe motor paralysis leading to death early in the neonatal period (Laquerriere et al., 2014).For a general phenotypic description and a discussion of genetic heterogeneity of lethal congenital contracture syndrome, see LCCS1 (OMIM ).

Related symptoms:

  • Generalized hypotonia
  • Cleft palate
  • Flexion contracture
  • Respiratory distress
  • Areflexia


SOURCES: OMIM MENDELIAN

More info about LETHAL CONGENITAL CONTRACTURE SYNDROME 8; LCCS8

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Other less relevant matches:

Low match MULTIPLE SYNOSTOSES SYNDROME 3; SYNS3


Related symptoms:

  • Cleft palate
  • Flexion contracture
  • Syndactyly
  • Proptosis
  • Craniosynostosis


SOURCES: MESH OMIM MENDELIAN

More info about MULTIPLE SYNOSTOSES SYNDROME 3; SYNS3

Low match NEMALINE MYOPATHY 9; NEM9


Nemaline myopathy-9 is an autosomal recessive muscle disorder characterized by onset of muscle weakness in early infancy. The phenotype is highly variable, ranging from death in infancy due to lack of antigravity movements, to slowly progressive distal muscle weakness with preserved ambulation later in childhood. Muscle biopsy shows typical rod-like structure in myofibers (summary by Gupta et al., 2013).For a discussion of genetic heterogeneity of nemaline myopathy, see {161800}.

Related symptoms:

  • Scoliosis
  • Micrognathia
  • Muscle weakness
  • Cleft palate
  • Flexion contracture


SOURCES: OMIM MENDELIAN

More info about NEMALINE MYOPATHY 9; NEM9

Low match LETHAL CONGENITAL CONTRACTURE SYNDROME 7; LCCS7


Lethal congenital contracture syndrome-7, an axoglial form of arthrogryposis multiplex congenita, is characterized by congenital distal joint contractures, polyhydramnios, reduced fetal movements, and severe motor paralysis leading to death early in the neonatal period (Laquerriere et al., 2014).For a general phenotypic description and a discussion of genetic heterogeneity of lethal congenital contracture syndrome, see LCCS1 (OMIM ).

Related symptoms:

  • Generalized hypotonia
  • Micrognathia
  • Cleft palate
  • Flexion contracture
  • Areflexia


SOURCES: OMIM MENDELIAN

More info about LETHAL CONGENITAL CONTRACTURE SYNDROME 7; LCCS7

Low match POPLITEAL PTERYGIUM SYNDROME; PPS


POPLITEAL PTERYGIUM SYNDROME; PPS Is also known as cleft lip/palate, paramedian mucous cysts of the lower lip, popliteal pterygium, digital and genital anomalies|faciogenitopopliteal syndrome

Related symptoms:

  • Cleft palate
  • Cryptorchidism
  • Flexion contracture
  • Abnormality of the skeletal system
  • Talipes equinovarus


SOURCES: OMIM MENDELIAN

More info about POPLITEAL PTERYGIUM SYNDROME; PPS

Low 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

Low match CEREBROOCULOFACIOSKELETAL SYNDROME 3; COFS3


Cerebrooculofacioskeletal syndrome is a severe, progressive neurologic disorder characterized by prenatal onset of arthrogryposis, microcephaly, and growth failure. Postnatal features include severe developmental delay, congenital cataracts (in some), and marked UV sensitivity of the skin. Survival beyond 6 years of age is rare. COFS represents the severe end of the spectrum of disorders caused by mutations in nucleotide excision repair (NER) genes, with Cockayne syndrome and xeroderma pigmentosum being milder NER-related phenotypes (summary by Drury et al., 2014).For a phenotypic description and a discussion of genetic heterogeneity of cerebrooculofacioskeletal syndrome, see COFS1 (OMIM ).

Related symptoms:

  • Global developmental delay
  • Microcephaly
  • Growth delay
  • Micrognathia
  • Cleft palate


SOURCES: OMIM MESH MENDELIAN

More info about CEREBROOCULOFACIOSKELETAL SYNDROME 3; COFS3

Low match NORMOSMIC CONGENITAL HYPOGONADOTROPIC HYPOGONADISM


NORMOSMIC CONGENITAL HYPOGONADOTROPIC HYPOGONADISM Is also known as isolated congenital gonadotropin deficiency|normosmic idiopathic hypogonadotropic hypogonadism|gonadotropic deficiency|nihh

Related symptoms:

  • Hypertelorism
  • Cleft palate
  • Cryptorchidism
  • Depressed nasal bridge
  • Abnormality of the dentition


SOURCES: ORPHANET MENDELIAN

More info about NORMOSMIC CONGENITAL HYPOGONADOTROPIC HYPOGONADISM

Top 5 symptoms//phenotypes associated to Cleft palate and Flexion contracture

Symptoms // Phenotype % cases
Arthrogryposis multiplex congenita Uncommon - Between 30% and 50% cases
Pterygium Uncommon - Between 30% and 50% cases
Micrognathia Uncommon - Between 30% and 50% cases
Syndactyly Uncommon - Between 30% and 50% cases
Cleft upper lip Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Cleft palate and Flexion contracture. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Akinesia Distal arthrogryposis Decreased fetal movement

Rare Symptoms - Less than 30% cases


Toe syndactyly Fetal akinesia sequence Scoliosis Hypoplasia of the uterus Knee flexion contracture Cryptorchidism Cutaneous syndactyly Generalized hypotonia Talipes equinovarus Paralysis Craniosynostosis Camptodactyly Facial diplegia Areflexia Polyhydramnios Oral-pharyngeal dysphagia Congenital contracture Cutaneous photosensitivity Rocker bottom foot Depressivity Hypertelorism Depressed nasal bridge Abnormality of the dentition Congenital cataract Brain atrophy Growth delay Cerebellar hypoplasia Microphthalmia Edema Ventriculomegaly Intrauterine growth retardation Low-set ears Cataract Osteoporosis Microcephaly Global developmental delay Multiple pterygia Spondylolisthesis Hip contracture Delayed skeletal maturation Hypogonadotrophic hypogonadism Micropenis Generalized joint laxity Abnormality of body height Absence of pubertal development Non-obstructive azoospermia Hypoplasia of the ovary Female hypogonadism Eunuchoid habitus Decreased testosterone in males Breast hypoplasia Absence of secondary sex characteristics Decreased serum testosterone level Male hypogonadism Secondary amenorrhea Osteopenia Sparse body hair Impotence Congenital sensorineural hearing impairment Abnormality of the voice Azoospermia Nasal speech Gynecomastia Primary amenorrhea Decreased testicular size Wide intermamillary distance Delayed puberty Anxiety Vertebral fusion Fibrous syngnathia Abnormal palate morphology Muscle weakness Abnormality of the skeletal system Progressive distal muscle weakness Breech presentation Narrow chest Distal muscle weakness Myopathy Respiratory insufficiency Ventricular septal defect Motor delay High palate Limited interphalangeal movement Cleft lip Metatarsal synostosis Metacarpal synostosis Hallux varus Humeroradial synostosis Cutaneous syndactyly of toes Broad hallux Cubitus valgus Broad thumb Dolichocephaly Proptosis Respiratory distress Dementia Bifid uvula Hemivertebrae Abnormality of the scrotum Elbow flexion contracture Low-set, posteriorly rotated ears Pectus excavatum Short neck Downslanted palpebral fissures Ptosis Short stature Pyramidal skinfold extending from the base to the top of the nails Intercrural pterygium Absent scrotum Lower lip pit Hypoplasia of the vagina Overgrowth Popliteal pterygium Ankyloblepharon Labial hypoplasia Hypoplastic labia majora Bilateral cleft lip and palate Bilateral cleft lip Cutaneous finger syndactyly Bifid scrotum Scrotal hypoplasia Spina bifida occulta Abnormality of the genital system Increased female libido



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