Cleft palate, and Rigidity

Diseases related with Cleft palate and Rigidity

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

Top matches:

Multiple epiphyseal dysplasia type 4 is a multiple epiphyseal dysplasia with a late-childhood onset, characterized by joint pain involving hips, knees, wrists, and fingers with occasional limitation of joint movements, deformity of hands, feet, and knees (club foot, clinodactyly, brachydactyly), scoliosis and slightly reduced adult height. Radiographs display flat epiphyses with early arthritis of the hip, and double-layered patella. Multiple epiphyseal dysplasia type 4 follows an autosomal recessive mode of transmission. The disease is allelic to diastrophic dwarfism, atelosteogenesis type 2 and achondrogenesis type 1B with whom it forms a clinical continuum.

MULTIPLE EPIPHYSEAL DYSPLASIA TYPE 4 Is also known as med4|multiple epiphyseal dysplasia, autosomal recessive|rmed|edm4|polyepiphyseal dysplasia type 4|multiple epiphyseal dysplasia with bilayered patellae|autosomal recessive multiple epiphyseal dysplasia|multiple epiphyseal dysplasia with clubfoot

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Scoliosis
  • Muscular hypotonia
  • Cleft palate


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about MULTIPLE EPIPHYSEAL DYSPLASIA TYPE 4

Hereditary neuralgic amyotrophy (HNA) is an autosomal dominant form of recurrent focal neuropathy characterized clinically by acute, recurrent episodes of brachial plexus neuropathy with muscle weakness and atrophy preceded by severe pain in the affected arm.

AMYOTROPHY, HEREDITARY NEURALGIC; HNA Is also known as neuritis with brachial predilection|napb|amyotrophy, hereditary neuralgic, with predilection for brachial plexus|brachial plexus neuropathy, hereditary

Related symptoms:

  • Short stature
  • Muscle weakness
  • Abnormal facial shape
  • Cleft palate
  • Pain


SOURCES: OMIM MENDELIAN

More info about AMYOTROPHY, HEREDITARY NEURALGIC; HNA

Barber Say syndrome (BSS) is a rare ectodermal dysplasia with neonatal onset characterized by congenital generalized hypertrichosis, atrophic skin, ectropion and microstomia.

BARBER-SAY SYNDROME Is also known as bss|hypertrichosis-atrophic skin-ectropion-macrostomia syndrome|hypertrichosis, atrophic skin, ectropion, and macrostomia

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hearing impairment
  • Growth delay
  • Hypertelorism


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about BARBER-SAY SYNDROME

Other less relevant matches:

Low match DESMOSTEROLOSIS

Desmosterolosis is a very rare sterol biosynthesis disorder characterized by multiple congenital anomalies, failure to thrive, and intellectual disability, with elevated levels of desmosterol.

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Microcephaly
  • Growth delay


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about DESMOSTEROLOSIS

Miller-Dieker Syndrome (MDS) is a contiguous gene deletion syndrome of chromosome 17p13.3, characterised by classical lissencephaly (lissencephaly type 1) and distinct facial features. Additional congenital malformations can be part of the condition.

MILLER-DIEKER SYNDROME Is also known as monosomy 17p13.3|lissencephaly due to 17p13.3 deletion|mds|telomeric deletion 17p

Related symptoms:

  • Intellectual disability
  • Seizures
  • Microcephaly
  • Ataxia
  • Growth delay


SOURCES: ORPHANET OMIM MENDELIAN

More info about MILLER-DIEKER SYNDROME

Najm type X-linked intellectual deficit is a rare cerebellar dysgenesis syndrome characterized by variable clinical manifestations ranging from mild intellectual deficit with or without congenital nystagmus, to severe cognitive impairment associated with cerebellar and pontine hypoplasia/atrophy and abnormalities of cortical development.

X-LINKED INTELLECTUAL DISABILITY, NAJM TYPE Is also known as fgs1|keller syndrome|fg syndrome|fgs|x-linked intellectual disability-microcephaly-pontocerebellar hypoplasia syndrome|mental retardation, large head, imperforate anus, congenital hypotonia, and partial agenesis of corpus callosum|fg syndrome 1|micpch

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about X-LINKED INTELLECTUAL DISABILITY, NAJM TYPE

Microcephalic osteodysplastic primordial dwarfism (MOPD) types 1 and 3 are characterized by intrauterine and postnatal growth retardation, microcephaly, facial dysmorphism, skeletal dysplasia, low-birth weight and brain anomalies. Although MOPD types 1 and 3 were originally described as two separate entities on the basis of radiological criteria (notably small differences in pelvic and long bone structure), later reports confirmed that the two forms represent different modes of expression of the same syndrome.

MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM TYPES I AND III Is also known as microcephalic osteodysplastic primordial dwarfism, taybi-linder type|low-birth-weight dwarfism with skeletal dysplasia|mopd i|mopd types i and iii|osteodysplastic primordial dwarfism, type i|primordial microcephalic dwarfism, crachami type|mopd|cephaloske

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM TYPES I AND III

Hyperekplexia-4 is an autosomal recessive severe neurologic disorder apparent at birth. Affected infants have extreme hypertonia and appear stiff and rigid. They have little if any development, poor or absent visual contact, and no spontaneous movement, consistent with an encephalopathy. Some patients have early-onset refractory seizures, and many have inguinal or umbilical hernia. Most patients die in the first months of life due to respiratory failure or other complications (summary by Piard et al., 2018).For a general description and a discussion of genetic heterogeneity of hyperekplexia, see HKPX1 (OMIM ).

Related symptoms:

  • Seizures
  • Global developmental delay
  • Flexion contracture
  • High palate
  • Hyperreflexia


SOURCES: OMIM MENDELIAN

More info about HYPEREKPLEXIA 4; HKPX4

Congenital myasthenic syndrome-19 is an autosomal recessive disorder resulting from a defect in the neuromuscular junction, causing generalized muscle weakness, exercise intolerance, and respiratory insufficiency. Patients present with hypotonia, feeding difficulties, and respiratory problems soon after birth, but the severity of the weakness and disease course is variable (summary by Logan et al., 2015).For a discussion of genetic heterogeneity of CMS, see CMS1A (OMIM ).

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Micrognathia
  • Muscle weakness
  • Ptosis


SOURCES: OMIM MENDELIAN

More info about MYASTHENIC SYNDROME, CONGENITAL, 19; CMS19

Achondroplasia is the most frequent form of short-limb dwarfism. Affected individuals exhibit short stature caused by rhizomelic shortening of the limbs, characteristic facies with frontal bossing and midface hypoplasia, exaggerated lumbar lordosis, limitation of elbow extension, genu varum, and trident hand (summary by Bellus et al., 1995).

Related symptoms:

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


SOURCES: MESH OMIM MENDELIAN

More info about ACHONDROPLASIA; ACH

Top 5 symptoms//phenotypes associated to Cleft palate and Rigidity

Symptoms // Phenotype % cases
Flexion contracture Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Low-set ears Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Micrognathia Common - Between 50% and 80% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Generalized hypotonia Growth delay Failure to thrive Seizures Abnormal facial shape Frontal bossing Downslanted palpebral fissures Microcephaly Anteverted nares Depressed nasal bridge Epicanthus Posteriorly rotated ears Abnormality of the skeletal system Hearing impairment Agenesis of corpus callosum Short stature Pachygyria Clinodactyly Clinodactyly of the 5th finger Motor delay Prominent forehead Short neck Gastroesophageal reflux Respiratory failure Sacral dimple Hypertelorism Heterotopia Single transverse palmar crease Wide nasal bridge Camptodactyly Inguinal hernia Telecanthus Cryptorchidism Severe short stature Thin vermilion border Partial agenesis of the corpus callosum Lissencephaly Spasticity Feeding difficulties Intrauterine growth retardation Macrocephaly Joint contracture of the hand Hypoplasia of the corpus callosum Bifid uvula Hypertonia Micromelia Hydrocephalus Retrognathia Scoliosis Syndactyly Skeletal dysplasia Talipes equinovarus Ptosis Pain Brachydactyly

Rare Symptoms - Less than 30% cases

High palate Relative macrocephaly Abnormality of neuronal migration Short metacarpal Narrow mouth Submucous cleft hard palate Abnormal cortical gyration Hyperreflexia Cataract Atrial septal defect Abnormality of cardiovascular system morphology Neoplasm Muscle stiffness Arthralgia Short nose Abnormal lung morphology Nystagmus Strabismus Multiple epiphyseal dysplasia Ventriculomegaly Bilateral talipes equinovarus Metatarsus adductus Patent ductus arteriosus Osteoarthritis Spondyloepiphyseal dysplasia Arthrogryposis multiplex congenita Epiphyseal dysplasia Polymicrogyria Intestinal malrotation Limb undergrowth Status epilepticus Rhizomelia Abnormal heart morphology Postnatal growth retardation Cerebral cortical atrophy Sparse hair Respiratory insufficiency Malar flattening Cerebral atrophy Megalencephaly Multiple joint contractures Dyspnea Abnormality of the nervous system Apnea Delayed myelination Fine hair Lumbar hyperlordosis Prominent nose Hypsarrhythmia Dolichocephaly Abnormal form of the vertebral bodies Polydactyly Abnormality of the metaphysis Cleft lip Joint laxity Umbilical hernia Cerebellar hypoplasia Ventricular septal defect Cognitive impairment Sensorineural hearing impairment Disproportionate short stature Hip contracture Prominent occiput Infantile muscular hypotonia Gait disturbance Skin tags Gingival fibromatosis Osteopetrosis Bulbous nose Wide mouth Abnormality of the pinna Muscle weakness Cupped ear Microtia Long nose Upslanted palpebral fissure Conductive hearing impairment Dry skin Sparse and thin eyebrow Dermal atrophy Aplasia/Hypoplasia of the skin Respiratory distress Hypospadias Delayed eruption of teeth Triangular face Clonus Abnormality of the urinary system Abnormality of the metacarpal bones Preaxial polydactyly Paraparesis Centrally nucleated skeletal muscle fibers Sparse eyelashes Elbow dislocation Short chin Acanthosis nigricans Knee flexion contracture Myelitis Sleep apnea Bilateral single transverse palmar creases Short long bone Elbow flexion contracture Absence seizures Hydroureter Upper airway obstruction Osteomalacia Cor pulmonale Delayed epiphyseal ossification Thickened nuchal skin fold Arachnoid cyst Severe intrauterine growth retardation Epileptic spasms Abnormality of femur morphology Short humerus Broad palm Dysuria Central apnea Prolonged neonatal jaundice Cortical gyral simplification Femoral bowing Bowing of the long bones Diabetes insipidus Large hands Rickets Short thumb Genu varum Disproportionate short-limb short stature Micropenis Abnormality of the kidney Muscular hypotonia of the trunk Myeloid leukemia Hydronephrosis Osteopenia Neuroblastoma Spinal canal stenosis Hypothyroidism Proptosis Hyperkeratosis Small for gestational age Glaucoma Hypogonadism Abnormality of the elbow Osteoporosis Alopecia Delayed skeletal maturation Obstructive sleep apnea Spinal cord compression Generalized joint laxity Fever Corneal opacity Hip dislocation Tinnitus Sloping forehead Abnormality of pelvic girdle bone morphology Abnormality of finger Back pain Sparse scalp hair Cerebellar vermis hypoplasia Renal hypoplasia Chronic otitis media Flared metaphysis Coarctation of aorta Oligohydramnios Short femoral neck Platyspondyly Tetralogy of Fallot Bowel incontinence Limited elbow extension Specific learning disability Premature birth Tibial bowing Renal cyst Thick vermilion border Short palm Hypotrichosis Hypoxemia Agenesis of cerebellar vermis Myelopathy Hyperlordosis Brisk reflexes Obesity Iritis Small foramen magnum Weight loss Childhood onset short-limb short stature Auricular pit Adducted thumb Kyphoscoliosis Hypertension Myoclonus Scarring Leukemia Encephalopathy Joint hyperflexibility Hernia Confusion Brain stem compression Oral cleft Midface retrusion Cervical cord compression Tremor Pes cavus Recurrent lower respiratory tract infections Bulbar palsy Chronic lung disease Poor head control Exercise intolerance Generalized muscle weakness Pectus carinatum Facial palsy Exaggerated startle response Delayed speech and language development Distal arthrogryposis Thoracolumbar kyphosis Chronic myelogenous leukemia Anemia Neonatal short-limb short stature Central sleep apnea Cervical myelopathy Obstructive lung disease Hypopnea Sleep disturbance Lymphoma Flat acetabular roof Broad distal phalanx of finger Trident hand Spinal stenosis with reduced interpedicular distance Abnormally ossified vertebrae Recurrent ear infections Central hypothyroidism Long clavicles Aplastic clavicle Tethered cord Abnormality of the upper urinary tract Abnormality of the intervertebral disk Short toe Thin eyebrow Colpocephaly Profound global developmental delay Spinal rigidity 11 pairs of ribs Hypoplastic ilia Short femur Long foot Recurrent urinary tract infections Hypoplasia of the frontal lobes Otitis media Recurrent otitis media Overgrowth Limited hip extension Bifid first metacarpal Cleft vertebral arch Epidermal acanthosis Tetraparesis Absent knee epiphyses Communicating hydrocephalus Enlarged metaphyses Bowed humerus Small anterior fontanelle Bifid femur Abnormality of the tragus Shoulder flexion contracture Abnormality of the pubic bone Abnormality of the distal phalanx of finger Loss of eyelashes Abnormality of calcium-phosphate metabolism Large iliac wings Aplasia/hypoplasia of the femur Facial wrinkling Behavioral abnormality Postnatal macrocephaly Generalized hirsutism Shawl scrotum Hypoplastic nipples Aplasia/Hypoplasia of the eyebrow Ectropion Sparse eyebrow Redundant skin Atresia of the external auditory canal Hyperextensible skin Cutis laxa Low anterior hairline Taurodontia Abnormality of the face Abnormality of the genital system Depressed nasal ridge Hypertrichosis Microdontia Abnormality of the skin Underdeveloped nasal alae Dental malocclusion Ectodermal dysplasia High, narrow palate Inverted nipples Absent nipple Mandibular prognathia Talipes Large earlobe Absent septum pellucidum Renal hypoplasia/aplasia Aplasia/Hypoplasia of the corpus callosum Microretrognathia Finger clinodactyly Increased bone mineral density Ambiguous genitalia Renal agenesis Toe syndactyly Sparse or absent eyelashes Low-set, posteriorly rotated ears Splenomegaly Abnormality of male external genitalia Ablepharon Frontal hirsutism Mild hearing impairment Abnormality of female external genitalia Generalized hypertrichosis Broad alveolar ridges Breast aplasia Hirsutism Brachial plexus neuropathy Generalized osteosclerosis Hip subluxation Edema Fatigue Skeletal muscle atrophy Peripheral neuropathy Double-layered patella Abnormality of the patella Hypoplasia of the femoral head Limited elbow flexion Knee pain Flat capital femoral epiphysis Hyporeflexia Abnormality of the knee Short finger Mild short stature Short middle phalanx of finger Metaphyseal irregularity Growth abnormality Hip dysplasia Small hand Arthritis Muscular hypotonia Depressivity Hyperhidrosis Radial head subluxation Narrow palpebral fissure Cutis gyrata of scalp Peripheral axonal degeneration Neuritis Weak voice Dysesthesia Chronic pain Facial paralysis Axonal degeneration Scapular winging Narrow face Deeply set eye Hoarse voice Hypotelorism Sensory impairment Postural instability Paresthesia Facial asymmetry Finger syndactyly Blepharophimosis Paralysis Myalgia Abnormality of the nose Anomalous pulmonary venous return Microtia, first degree Unsteady gait Aganglionic megacolon Broad thumb Open mouth Choanal atresia Split hand Thick lower lip vermilion Webbed neck Downturned corners of mouth Cleft upper lip Anal atresia Wide anterior fontanel Severe global developmental delay Broad forehead Attention deficit hyperactivity disorder Craniosynostosis Intellectual disability, moderate Aggressive behavior Anxiety Neonatal hypotonia Macrotia Hyperactivity Dental crowding Gynecomastia Absent speech Anteriorly placed anus Prominent fingertip pads Frontal upsweep of hair Abnormality of the nasopharynx Sagittal craniosynostosis Gastrointestinal dysmotility Delayed closure of the anterior fontanelle Facial hypotonia Thoracic scoliosis Anal stenosis Abnormality of the sternum Narrow palate Broad hallux High pitched voice Bowing of the legs Radial deviation of finger Impulsivity Chorioretinal coloboma Congenital contracture Pyloric stenosis Optic nerve hypoplasia Plagiocephaly Constipation Dilatation Ambiguous genitalia, male Brachycephaly Nephropathy Wide nose Flat face Paraplegia Spastic paraplegia EEG abnormality Thin upper lip vermilion High forehead Polyhydramnios Abnormality of metabolism/homeostasis Narrow forehead Dysphagia Ataxia 2-4 toe syndactyly Hypoplastic nasal bridge Alveolar ridge overgrowth Abnormality of cholesterol metabolism Macrogyria Ambiguous genitalia, female Total anomalous pulmonary venous return Abnormality of earlobe Abnormality of the cardiovascular system Decreased fetal movement Long philtrum Agyria Optic atrophy Myopia Visual impairment Bitemporal hollowing Midline brain calcifications Type I lissencephaly Abnormality of upper lip Pelvic kidney Decerebrate rigidity Recurrent aspiration pneumonia Omphalocele Cavum septum pellucidum Deep palmar crease Thick upper lip vermilion Duodenal atresia Premature skin wrinkling Infantile spasms Progressive spastic paraplegia Spastic diplegia Deep philtrum Spastic gait Lumbar kyphosis in infancy


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