Cleft palate, and Arthrogryposis multiplex congenita

Diseases related with Cleft palate and Arthrogryposis multiplex congenita

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


Top matches:

Medium 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

Medium 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

Medium 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

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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 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

Medium match EARLY-ONSET MYOPATHY WITH FATAL CARDIOMYOPATHY


EARLY-ONSET MYOPATHY WITH FATAL CARDIOMYOPATHY Is also known as myopathy, early-onset, with fatal cardiomyopathy|salih myopathy|eomfc

Related symptoms:

  • Generalized hypotonia
  • Scoliosis
  • Hypertelorism
  • Muscle weakness
  • Ptosis


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about EARLY-ONSET MYOPATHY WITH FATAL CARDIOMYOPATHY

Medium match CENTRAL CORE DISEASE OF MUSCLE; CCD


Typical central core disease is a relatively mild congenital myopathy, usually characterized by motor developmental delay and signs of mild proximal weakness most pronounced in the hip girdle musculature. Orthopedic complications, particularly congenital dislocation of the hips and scoliosis, are common, and CCD patients are at risk of having malignant hyperthermia (MHS1 ). Onset of CCD is usually in childhood, although adult onset has also been reported, illustrating phenotypic variability (Jungbluth et al., 2009). Some patients can present in utero or at birth with severe congenital myopathy (Bharucha-Goebel et al., 2013).

CENTRAL CORE DISEASE OF MUSCLE; CCD Is also known as cco

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Scoliosis
  • Muscle weakness


SOURCES: OMIM MENDELIAN

More info about CENTRAL CORE DISEASE OF MUSCLE; CCD

Medium match FOWLER SYNDROME


The proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome is a rare, autosomal recessive, usually prenatally lethal disorder characterized by hydranencephaly, a distinctive glomerular vasculopathy in the central nervous system and retina, and diffuse ischemic lesions of the brain stem, basal ganglia, and spinal cord with calcifications. It is usually diagnosed by ultrasound between 26 and 33 weeks' gestation (summary by Meyer et al., 2010). Rarely, affected individuals may survive, but are severely impaired with almost no neurologic development (Kvarnung et al., 2016).

FOWLER SYNDROME Is also known as epv|cerebral proliferative glomeruloid vasculopathy|fowler syndrome|proliferative vasculopathy and hydranencephaly/hydrocephaly|hydranencephaly, fowler type|hydrocephaly/hydranencephaly due to cerebral vasculopathy|encephaloclastic proliferative vasculopa

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about FOWLER SYNDROME

Medium match DISTAL ARTHROGRYPOSIS TYPE 5D


Distal arthrogryposis type 5D is a rare subtype of distal arthrogryposis syndrome characterized by arthrogryposis multiplex congenita affecting the hands, feet, ankle, shoulders and/or neck, with camptodactyly of the fingers and limited knee and hip extension, associated with asymmetric ptosis and, less frequently, other ocular manifestations (e.g. ophthalmoplegia, strabismus). Affected individuals frequently have a bulbous nose, furrowed tongue, micro/retrognathia, a short neck, congenital hip dislocation, club feet, scoliosis and short stature.

DISTAL ARTHROGRYPOSIS TYPE 5D Is also known as distal arthrogryposis type 5 without ophthalmoparesis|da5d|distal arthrogryposis type 5 without ophthalmoplegia

Related symptoms:

  • Short stature
  • Scoliosis
  • Micrognathia
  • Cleft palate
  • Ptosis


SOURCES: OMIM ORPHANET MENDELIAN

More info about DISTAL ARTHROGRYPOSIS TYPE 5D

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

Top 5 symptoms//phenotypes associated to Cleft palate and Arthrogryposis multiplex congenita

Symptoms // Phenotype % cases
Flexion contracture Very Common - Between 80% and 100% cases
Micrognathia Common - Between 50% and 80% cases
Pterygium Common - Between 50% and 80% cases
Scoliosis Common - Between 50% and 80% cases
Generalized hypotonia Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Cleft palate and Arthrogryposis multiplex congenita. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Decreased fetal movement Distal arthrogryposis Talipes equinovarus Global developmental delay Polyhydramnios Knee flexion contracture Ptosis Akinesia Short stature Camptodactyly Short neck Myopathy Hip dislocation Skeletal muscle atrophy Fetal akinesia sequence Intrauterine growth retardation Motor delay Areflexia Congenital hip dislocation Muscle weakness Congenital contracture

Rare Symptoms - Less than 30% cases


Seizures Ophthalmoplegia Hyperlordosis Decreased muscle mass Ventriculomegaly Cerebellar hypoplasia Rocker bottom foot Cardiomyopathy Neonatal hypotonia Facial palsy Muscular dystrophy Lumbar hyperlordosis Generalized muscle weakness Webbed neck Pes planus Myopathic facies Centrally nucleated skeletal muscle fibers Minicore myopathy Low-set ears Talipes Submucous cleft hard palate Kyphoscoliosis Dandy-Walker malformation Syndactyly Paralysis Growth delay Downslanted palpebral fissures Pectus excavatum Respiratory insufficiency Elbow flexion contracture Ventricular septal defect High palate Facial diplegia Oral-pharyngeal dysphagia Microcephaly Multiple pterygia Limb joint contracture Hypsarrhythmia Thoracolumbar scoliosis Cerebral calcification Down-sloping shoulders Abnormality of the rib cage Adducted thumb Decreased hip abduction Exotropia Microretrognathia Severe hydrocephalus Lissencephaly Hypoplasia of the brainstem Round face Cystic hygroma Highly arched eyebrow Hypoplastic labia majora Bulbous nose Hydranencephaly Ulnar deviation of the hand or of fingers of the hand Anteverted nares Single transverse palmar crease Pulmonary insufficiency Furrowed tongue Intellectual disability, mild Abnormality of skin pigmentation Facial asymmetry Triangular face Premature birth Finger syndactyly Camptodactyly of finger Bifid uvula Retinopathy Limitation of joint mobility Protruding ear Deeply set eye Clinodactyly of the 5th finger Interphalangeal joint contracture of finger Labial hypoplasia Short phalanx of finger Epicanthus Abnormal vertebral morphology Overlapping toe Cryptorchidism Bilateral talipes equinovarus Hearing impairment Intellectual disability Limited knee flexion Cutaneous finger syndactyly Unilateral ptosis Tongue atrophy Calcaneovalgus deformity Abnormality of the foot Mitochondrial depletion Agenesis of corpus callosum Spondylolisthesis Abnormal cardiac septum morphology Elevated serum creatine phosphokinase Arrhythmia Congestive heart failure Atrial septal defect Hypertelorism Cutaneous photosensitivity Brain atrophy Congenital cataract Microphthalmia Edema Cataract Hip contracture Radioulnar synostosis Vertebral fusion Nasal speech Abnormal palate morphology Cutaneous syndactyly Hemivertebrae Craniosynostosis Low-set, posteriorly rotated ears Progressive distal muscle weakness Breech presentation Narrow chest Distal muscle weakness Respiratory distress Dilated cardiomyopathy Congenital muscular dystrophy Abnormality of metabolism/homeostasis Limb-girdle muscular dystrophy Dilatation Hydrocephalus Macrocephaly Visual impairment Stooped posture Generalized limb muscle atrophy Skeletal myopathy Type 1 muscle fiber predominance Nemaline bodies Malignant hyperthermia Spinal rigidity Ophthalmoparesis Muscle cramps Calf muscle hypertrophy Hypertrophic cardiomyopathy Proximal muscle weakness Fatigue Fever Feeding difficulties Cognitive impairment Increased endomysial connective tissue Abnormal levels of creatine kinase in blood Left ventricular noncompaction Cleft soft palate Ankle contracture Difficulty running Difficulty climbing stairs Camptodactyly of toe



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