Cleft palate, and Arachnodactyly

Diseases related with Cleft palate and Arachnodactyly

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


Top matches:

Medium match HAMEL CEREBRO-PALATO-CARDIAC SYNDROME


Hamel cerebro-palato-cardiac syndrome is an X-linked intellectual disability syndrome (XLMR; see this term) characterized by intellectual deficiency, microcephaly and short stature. It belongs to the group of disorders collectively referred to as Renpenning syndrome (see this term).

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Microcephaly
  • Micrognathia


SOURCES: ORPHANET MENDELIAN

More info about HAMEL CEREBRO-PALATO-CARDIAC SYNDROME

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 ANTLEY-BIXLER SYNDROME


Antley-Bixler syndrome is a very rare disorder characterised by craniosynostosis with midface hypoplasia, radiohumeral synostosis, femoral bowing and joint contractures.

Related symptoms:

  • Hypertelorism
  • Strabismus
  • Cleft palate
  • Downslanted palpebral fissures
  • Frontal bossing


SOURCES: ORPHANET MENDELIAN

More info about ANTLEY-BIXLER SYNDROME

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Other less relevant matches:

Medium match 2Q24 MICRODELETION SYNDROME


2q24 microdeletion syndrome is a chromosomal anomaly consisting of a partial long arm deletion of chromosome 2 and characterized clinically by a wide range of manifestations (depending on the specific region deleted) which can include seizures, microcephaly, dysmorphic features, cleft palate, eye abnormalities (coloboma, cataract and microphthalmia), growth retardation, failure to thrive, heart defects, limb anomalies, developmental delay and autism.

2Q24 MICRODELETION SYNDROME Is also known as monosomy 2q24|del(2)(q24)

Related symptoms:

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


SOURCES: ORPHANET MESH MENDELIAN

More info about 2Q24 MICRODELETION SYNDROME

Medium match FAMILIAL VISCERAL MYOPATHY


Familial visceral myopathy is a rare hereditary myopathic degeneration of both gastrointestinal and urinary tracts that causes chronic intestinal pseudo-obstruction. It usually presents after the first decade of life with megaduodenum, megacystis and symptoms such as abdominal distension and/or pain, vomiting, constipation, diarrhea, dysphagia, and/or urinary tract infections.n.

FAMILIAL VISCERAL MYOPATHY Is also known as familial hollow visceral myopathy|megaduodenum and/or megacystis|hereditary hollow visceral myopathy

Related symptoms:

  • Microcephaly
  • Micrognathia
  • Cleft palate
  • Anteverted nares
  • Abnormality of cardiovascular system morphology


SOURCES: ORPHANET MENDELIAN

More info about FAMILIAL VISCERAL MYOPATHY

Medium match BRITTLE CORNEA SYNDROME


Brittle cornea syndrome is a form of Ehlers-Danlos syndrome characterized by a severe ocular manifestations due to extreme corneal thinning and fragility with rupture in the absence of significant trauma, and progression to blindness. Extraocular manifestations comprise deafness, developmental hip dysplasia, and joint hypermobility.

Related symptoms:

  • Hearing impairment
  • Scoliosis
  • Sensorineural hearing impairment
  • Cleft palate
  • High palate


SOURCES: OMIM ORPHANET MENDELIAN

More info about BRITTLE CORNEA SYNDROME

Medium match ANEURYSM-OSTEOARTHRITIS SYNDROME


ANEURYSM-OSTEOARTHRITIS SYNDROME Is also known as loeys-dietz syndrome with osteoarthritis|loeys-dietz syndrome, type 1c, formerly|lds1c, formerly|aneurysms-osteoarthritis syndrome

Related symptoms:

  • Scoliosis
  • Hypertelorism
  • Cleft palate
  • Pain
  • High palate


SOURCES: ORPHANET OMIM MENDELIAN

More info about ANEURYSM-OSTEOARTHRITIS SYNDROME

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 X-LINKED INTELLECTUAL DISABILITY WITH MARFANOID HABITUS


The Lujan-Fryns syndrome or X-linked mental retardation (XLMR) with marfanoid habitus syndrome is a syndromic X-linked form of intellectual disability, associated with tall, marfanoid stature, distinct facial dysmorphism and behavioral problems.

X-LINKED INTELLECTUAL DISABILITY WITH MARFANOID HABITUS Is also known as lujan syndrome|mental retardation, x-linked, with marfanoid habitus|lujan-fryns syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Scoliosis


SOURCES: OMIM ORPHANET MENDELIAN

More info about X-LINKED INTELLECTUAL DISABILITY WITH MARFANOID HABITUS

Medium match LOEYS-DIETZ SYNDROME 5; LDS5


Loeys-Dietz syndrome-5 (LDS5), also known as Rienhoff (pronounced REENhoff) syndrome, is characterized by syndromic presentation of aortic aneurysms involving the thoracic and/or abdominal aorta, with risk of dissection and rupture. Other systemic features include cleft palate, bifid uvula, mitral valve disease, skeletal overgrowth, cervical spine instability, and clubfoot deformity; however, not all clinical features occur in all patients. In contrast to other forms of LDS (see {609192}), no striking aortic or arterial tortuosity is present in these patients, and there is no strong evidence for early aortic dissection (summary by Bertoli-Avella et al., 2015).For a general phenotypic description and a discussion of genetic heterogeneity of Loeys-Dietz syndrome, see LDS1 (OMIM ).

LOEYS-DIETZ SYNDROME 5; LDS5 Is also known as rienhoff syndrome|rnhf

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Scoliosis
  • Growth delay
  • Hypertelorism


SOURCES: OMIM MENDELIAN

More info about LOEYS-DIETZ SYNDROME 5; LDS5

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

Symptoms // Phenotype % cases
High palate Uncommon - Between 30% and 50% cases
Hypertelorism Uncommon - Between 30% and 50% cases
Pectus excavatum Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Anteverted nares Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Scoliosis Camptodactyly of finger Brachycephaly Mitral valve prolapse Global developmental delay Micrognathia Muscular hypotonia Pes planus Downslanted palpebral fissures Generalized hypotonia Soft skin Low-set, posteriorly rotated ears Bruising susceptibility Recurrent fractures Camptodactyly Osteoporosis Short philtrum Inguinal hernia Hernia Seizures Growth delay Short stature Prominent nasal bridge Umbilical hernia Neonatal hypotonia Atrial septal defect Dilatation Pectus carinatum Bifid uvula Slender finger Narrow mouth Joint hypermobility Long fingers Myopia Osteoarthritis Disproportionate tall stature

Rare Symptoms - Less than 30% cases


Tall stature Abnormality of the dentition Long face Aortic dissection Gait disturbance Kyphoscoliosis Ptosis Spondylolisthesis Arterial tortuosity Aortic root aneurysm Smooth philtrum Abnormality of the sternum Narrow face Pulmonic stenosis Mitral regurgitation Joint hyperflexibility Aortic aneurysm High myopia Blue sclerae Ventricular septal defect Cognitive impairment Low-set ears Flexion contracture Dental crowding Decreased muscle mass Joint laxity Nasal speech Aortic regurgitation Small for gestational age Talipes equinovarus Abnormality of cardiovascular system morphology Sensorineural hearing impairment Proptosis Frontal bossing Joint stiffness Narrow chest Retinal detachment Glaucoma Long philtrum Cataract Midface retrusion Behavioral abnormality Bulbous nose Hearing impairment Microcephaly Malar flattening Cervical spine instability Long palpebral fissure Spontaneous abortion Celiac disease Reduced subcutaneous adipose tissue Sparse eyebrow Cerebral hemorrhage Difficulty walking Ectopia lentis Broad face Epileptic spasms Slender build Hyperextensibility of the finger joints Small earlobe Long hallux Narrow palm Focal motor seizures Hiatus hernia Cleft soft palate Hyperpigmentation of the skin Wide intermamillary distance Facial asymmetry Abnormality of movement Unsteady gait High, narrow palate Abnormality of the pinna Postural instability Generalized myoclonic seizures Webbed neck Arterial dissection Synophrys Bilateral coxa valga Intellectual disability, profound Thick lower lip vermilion Broad-based gait Asymmetry of the ears Intellectual disability, moderate Ascending aortic dissection Graves disease Long palm Ascending tubular aorta aneurysm Patent foramen ovale Schizophrenia Cat cry Hypoplasia of the maxilla Psychosis Open mouth Broad thumb Anorexia Mandibular prognathia Short chin Aplasia/Hypoplasia of the corpus callosum Abnormality of the genitourinary system Deep philtrum Motor delay Oppositional defiant disorder Abnormality of the voice Obsessive-compulsive behavior Emotional lability Long nose Narrow nasal bridge Low frustration tolerance Macroorchidism Abnormality of the rib cage Impaired social interactions Abnormally folded helix Hyporeflexia Feeding difficulties High forehead Velopharyngeal insufficiency Brachydactyly Intrauterine growth retardation Macrocephaly Intellectual disability, mild Agenesis of corpus callosum Prominent forehead Hyperactivity Autism Atrioventricular block Thin upper lip vermilion Retrognathia Joint contracture of the hand Exotropia Aggressive behavior Overgrowth Protruding ear Attention deficit hyperactivity disorder Syncope Arthrogryposis multiplex congenita Dolichocephaly Neurological speech impairment Abnormal cardiac septum morphology Hallucinations Ventricular hypertrophy Myoclonus Abnormal oral frenulum morphology Short neck Microphthalmia Autistic behavior Coloboma Severe global developmental delay Toe syndactyly Interphalangeal joint contracture of finger Central apnea Small face Hand clenching Abnormality iris morphology Elbow ankylosis Bullet-shaped distal phalanx of the hallux Broad forehead Abdominal distention Vesicoureteral reflux Round face Aganglionic megacolon Hydroureter Anonychia Hyperparathyroidism Aplasia/Hypoplasia of the abdominal wall musculature Failure to thrive Narrow pelvis bone Megacystis Abnormal vitreous humor morphology Wide nasal bridge Cupped ear Depressed nasal bridge Arthralgia Retinopathy Spondyloepiphyseal dysplasia Arthropathy Glossoptosis Exostoses Pierre-Robin sequence Abnormal metacarpal morphology Abnormal renal morphology Strabismus Short nose Craniosynostosis Talipes Abnormality of the ribs Choanal atresia Delayed cranial suture closure Femoral bowing Underdeveloped supraorbital ridges Turricephaly Hypoplasia of the zygomatic bone Abdominal situs inversus Edema Absent speech Osteochondritis Dissecans Dental malocclusion Atrial fibrillation Left ventricular hypertrophy Bicuspid aortic valve Back pain Abnormal joint morphology Striae distensae Subarachnoid hemorrhage Dilatation of the cerebral artery Low back pain Thoracic aortic aneurysm Patent ductus arteriosus Hip osteoarthritis Dural ectasia Abdominal aortic aneurysm Protrusio acetabuli Intervertebral disc degeneration Uterine prolapse Knee osteoarthritis Abnormal facial shape Cryptorchidism Delayed speech and language development Dysarthria Migraine Headache Visual loss Increased susceptibility to fractures Conductive hearing impairment Myalgia Hip dislocation Microcornea Hip dysplasia Abnormality of epiphysis morphology Congenital hip dislocation Cutis laxa Corneal dystrophy Hyperextensible skin Hallux valgus Abnormality of the skeletal system Keratoconus Megalocornea Sclerocornea Corneal erosion Corneal scarring Shoulder dislocation Flat cornea Keratoglobus Decreased corneal thickness Abnormality of hair pigmentation Pain Increased arm span



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