Cleft palate, and Tall stature

Diseases related with Cleft palate and Tall stature

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


Top matches:

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 DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE


Dyssegmental dysplasia, Silverman-Handmaker type is a rare, genetic, primary bone dysplasia disorder, and lethal form of neonatal short-limbed dwarfism, characterized by anisospondyly, severe short stature and limb shortening, metaphyseal flaring and distinct dysmorphic features (i.e. flat facial appearance, abnormal ears, short neck, narrow thorax). Additional features may include other skeletal findings (e.g. joint contractures, bowed limbs, talipes equinovarus) and urogenital and cardiovascular abnormalities.

DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE Is also known as dyssegmental dwarfism, silverman-handmaker type|anisospondylic camptomicromelic dwarfism, silverman-handmaker type

Related symptoms:

  • Micrognathia
  • Cleft palate
  • Cryptorchidism
  • Wide nasal bridge
  • Talipes equinovarus


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE

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Other less relevant matches:

Low 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

Low match BECKWITH-WIEDEMANN SYNDROME DUE TO CDKN1C MUTATION


Related symptoms:

  • Strabismus
  • Cleft palate
  • Cryptorchidism
  • Hepatomegaly
  • Ventricular septal defect


SOURCES: ORPHANET MENDELIAN

More info about BECKWITH-WIEDEMANN SYNDROME DUE TO CDKN1C MUTATION

Low match EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC AND DEAFNESS TYPE


Ehlers-Danlos syndrome, kyphoscoliotic and deafness type is a form of Ehlers-Danlos syndrome, characterized by severe generalized hypotonia at birth with severe early-onset kyphoscolosis along with joint hypermobility (without contractures) leading to recurrent dislocations, and sensorineural hearing impairment.

EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC AND DEAFNESS TYPE Is also known as ehlers-danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss|ehlers-danlos syndrome with progressive kyphoscoliosis, myopathy, and deafness|edskmh|eds with progressive kyphoscoliosis, myopathy, and deafness|eds, kyphoscoliotic and he

Related symptoms:

  • Generalized hypotonia
  • Hearing impairment
  • Scoliosis
  • Sensorineural hearing impairment
  • Muscle weakness


SOURCES: OMIM ORPHANET MENDELIAN

More info about EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC AND DEAFNESS TYPE

Low 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

Low 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

Low 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

Low match BECKWITH-WIEDEMANN SYNDROME DUE TO 11P15 MICRODELETION


Related symptoms:

  • Microcephaly
  • Hypertelorism
  • Cleft palate
  • Cryptorchidism
  • Epicanthus


SOURCES: ORPHANET MENDELIAN

More info about BECKWITH-WIEDEMANN SYNDROME DUE TO 11P15 MICRODELETION

Top 5 symptoms//phenotypes associated to Cleft palate and Tall stature

Symptoms // Phenotype % cases
Umbilical hernia Common - Between 50% and 80% cases
Cryptorchidism Common - Between 50% and 80% cases
Inguinal hernia Uncommon - Between 30% and 50% cases
Disproportionate tall stature Uncommon - Between 30% and 50% cases
Patent ductus arteriosus Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Overgrowth Flexion contracture Ventricular septal defect High palate Talipes equinovarus Macroglossia Visceromegaly Osteoporosis Pectus excavatum Auricular pit Anterior creases of earlobe Abdominal wall defect Nevus flammeus Hemihypertrophy Diastasis recti Atrial septal defect Neonatal hypoglycemia Enlarged kidney Seizures Large for gestational age Hepatomegaly Splenomegaly Abnormality of the outer ear Abnormality of the face Premature birth Facial asymmetry Abnormality of the kidney Generalized hypotonia Scoliosis Slender finger Arachnodactyly Muscular hypotonia Brachycephaly Hypertelorism

Rare Symptoms - Less than 30% cases


Dental crowding Abnormality of the ureter Cognitive impairment Low-set ears Global developmental delay Intellectual disability Joint laxity Soft skin Nephroblastoma Dilatation Camptodactyly Omphalocele Aortic aneurysm Bruising susceptibility Kyphoscoliosis Pes planus Myopia Synophrys Prominent nasal bridge Abnormality of the dentition Osteopenia Short philtrum Epicanthus Gait disturbance Narrow face Ptosis Pain Growth delay Hernia Embryonal neoplasm Mandibular prognathia Nasal speech Coarse facial features Malar flattening Polyhydramnios Abnormal heart morphology Abnormality of the skeletal system Delayed speech and language development Muscle weakness Neoplasm Blue sclerae Hypoglycemia Micrognathia Narrow mouth Bifid uvula Respiratory distress Difficulty walking Microcephaly Protruding ear Proptosis Jaundice Myoclonus Absent speech Abnormally folded helix Deeply set eye Dysarthria Anteverted nares Oppositional defiant disorder Intellectual disability, moderate Abnormality of the pinna Cat cry Pectus carinatum Abdominal distention Low frustration tolerance Velopharyngeal insufficiency Ascending tubular aorta aneurysm Impaired social interactions Abnormality of the rib cage Macroorchidism Abnormality of movement Smooth philtrum Hematuria Knee osteoarthritis Full cheeks Low back pain Back pain Abnormality of the sternum Posterior helix pit Abnormal joint morphology Hemifacial hypertrophy Striae distensae Asymmetry of the thorax Mild global developmental delay Abnormal eyebrow morphology Subarachnoid hemorrhage Dilatation of the cerebral artery Aortic dissection Spondylolisthesis Osteochondritis Dissecans Abnormal facial shape Thoracic aortic aneurysm Hip osteoarthritis Arterial tortuosity Capillary hemangioma Dural ectasia Abdominal aortic aneurysm Protrusio acetabuli Intervertebral disc degeneration Uterine prolapse Bulbous nose Cardiomegaly Prominent nose Short stature Unsteady gait Webbed neck High, narrow palate Abnormality of the genitourinary system Intellectual disability, mild Agenesis of corpus callosum Prominent forehead Hyperactivity Autism Aortic regurgitation Obsessive-compulsive behavior High forehead Thin upper lip vermilion Abnormality of the voice Deep philtrum Schizophrenia Aplasia/Hypoplasia of the corpus callosum Emotional lability Short chin Hallucinations Anorexia Broad thumb Aggressive behavior Open mouth Psychosis Hypoplasia of the maxilla Long face Joint hyperflexibility Neurological speech impairment Attention deficit hyperactivity disorder Camptodactyly of finger Behavioral abnormality Frontal bossing Recurrent fractures Decreased muscle mass Postural instability Generalized myoclonic seizures Wide intermamillary distance High myopia Intellectual disability, profound Thick lower lip vermilion Broad-based gait Aortic root aneurysm Hyperpigmentation of the skin Narrow nasal bridge Spontaneous abortion Sparse eyebrow Long fingers Macrocephaly Epileptic spasms Slender build Hyperextensibility of the finger joints Small earlobe Long hallux Narrow palm Focal motor seizures Long palm Long nose Asymmetry of the ears Feeding difficulties Brachydactyly Intrauterine growth retardation Bicuspid aortic valve Sloping forehead Left ventricular hypertrophy Delayed skeletal maturation Abnormality of the metaphysis Bowing of the long bones Disproportionate short-limb short stature Short long bone Abnormality of pelvic girdle bone morphology Thoracic hypoplasia Calvarial skull defect Abnormality of the abdominal wall Neonatal short-limb short stature Anisospondyly Clinodactyly Micropenis Autistic behavior Rhabdomyosarcoma Hyperhidrosis Pulmonary hypoplasia Palmoplantar hyperkeratosis Arthropathy Thickened calvaria Acne Clubbing Patent foramen ovale Redundant skin Wormian bones Arthralgia Thickened skin Large fontanelles Limitation of joint mobility Skin rash Erythema Arthritis Depressed nasal ridge Flat face Joint swelling Hypoplastic labia majora Syndactyly Dementia Cleft lip Toe syndactyly Cleft upper lip Abnormality of the genital system Spina bifida occulta Scrotal hypoplasia Pterygium Bifid scrotum Hypoplasia of the uterus Cutaneous finger syndactyly Bilateral cleft lip Bilateral cleft lip and palate Labial hypoplasia Micromelia Pyramidal skinfold extending from the base to the top of the nails Narrow chest Joint stiffness Posteriorly rotated ears Severe short stature Respiratory insufficiency Wide nasal bridge Intercrural pterygium Ankyloblepharon Absent scrotum Fibrous syngnathia Lower lip pit Abnormality of the scrotum Hypoplasia of the vagina Popliteal pterygium Growth hormone excess Heart block Mitral regurgitation Atrophic scars Abnormality of the foot Joint hypermobility Microcornea Waddling gait Hypotelorism Severe muscular hypotonia Cutis laxa Poor head control Easy fatigability Hyperextensible skin Poor suck Increased susceptibility to fractures Congenital muscular dystrophy Difficulty climbing stairs Follicular hyperkeratosis Scarring Pulmonic stenosis Osteoarthritis Atrial fibrillation Ventricular hypertrophy Mitral valve prolapse Dental malocclusion Migraine Headache Cleft soft palate Aortic rupture Abnormal eye morphology Arterial rupture High-frequency sensorineural hearing impairment Keloids Bladder diverticulum Muscular dystrophy Hyperkeratosis Flushing Psoriasiform dermatitis Osteolytic defects of the phalanges of the hand Clubbing of fingers Seborrheic dermatitis Long clavicles Wide cranial sutures Hip pain Eczematoid dermatitis Periostosis Subperiosteal bone formation Strabismus Hypospadias Polydactyly Apnea Renal cyst Supernumerary nipple Elevated serum creatine phosphokinase Postauricular pit Myopathy Cardiomyopathy Skeletal muscle atrophy Motor delay Sensorineural hearing impairment Hearing impairment Prune belly Neuroblastoma Tethered cord Abnormality of earlobe Skin tags Abnormality of the vasculature Central hypotonia Syringomyelia Congenital megaureter



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