Delayed speech and language development, and Neuroblastoma

Diseases related with Delayed speech and language development and Neuroblastoma

In the following list you will find some of the most common rare diseases related to Delayed speech and language development and Neuroblastoma that can help you solving undiagnosed cases.


Top matches:

Medium match SKIN CREASES, CONGENITAL SYMMETRIC CIRCUMFERENTIAL, 1; CSCSC1

Congenital symmetric circumferential skin creases is characterized by the folding of excess skin, which leads to ringed creases, primarily of the limbs. Affected individuals also exhibit intellectual disability, cleft palate, and dysmorphic features (summary by Isrie et al., 2015). Genetic Heterogeneity of Congenital Symmetric Circumferential Skin CreasesCSCSC2 (OMIM ) is caused by mutation in the MAPRE2 gene (OMIM ) on chromosome 18q12.

SKIN CREASES, CONGENITAL SYMMETRIC CIRCUMFERENTIAL, 1; CSCSC1 Is also known as skin creases, multiple benign ring-shaped, of limbs, circumferential skin creases, kunze type, michelin tire baby syndrome;ccsf; circumferential skin creases, kunze type; congenital circumferential skin folds; kunze-riehm syndrome

Related symptoms:

  • Autosomal dominant inheritance
  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature


SOURCES: ORPHANET OMIM UMLS SCTID

More info about SKIN CREASES, CONGENITAL SYMMETRIC CIRCUMFERENTIAL, 1; CSCSC1

Low match ACHONDROPLASIA; ACH

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:

  • Autosomal dominant inheritance
  • Short stature
  • Generalized hypotonia
  • Pica
  • Hearing impairment


SOURCES: ICD10 NCIT DOID MESH GARD MONDO OMIM

More info about ACHONDROPLASIA; ACH

Low match SOTOS SYNDROME 1; SOTOS1

SOTOS SYNDROME 1; SOTOS1 Is also known as sotos syndrome, cerebral gigantism, chromosome 5q35 deletion syndrome

Related symptoms:

  • Autosomal dominant inheritance
  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia


SOURCES: NCIT MONDO OMIM

More info about SOTOS SYNDROME 1; SOTOS1

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Other less relevant matches:

Low match CHROMOSOME 1p36 DELETION SYNDROME

The constitutional deletion of chromosome 1p36 results in a syndrome with multiple congenital anomalies and mental retardation (Shapira et al., 1997). Monosomy 1p36 is the most common terminal deletion syndrome in humans, occurring in 1 in 5,000 births (Shaffer and Lupski, 2000; Heilstedt et al., 2003).See also neurodevelopmental disorder with or without anomalies of the brain, eye, or heart (NEDBEH ), which shows overlapping features and is caused by heterozygous mutation in the RERE gene (OMIM ) on proximal chromosome 1p36.

CHROMOSOME 1p36 DELETION SYNDROME Is also known as monosomy 1p36 syndrome;del(1)(p36); deletion 1p36; deletion 1pter; monosomy 1p36; monosomy 1pter; subtelomeric 1p36 deletion

Related symptoms:

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


SOURCES: GARD UMLS ORPHANET MONDO SCTID DOID OMIM NCIT MESH

More info about CHROMOSOME 1p36 DELETION SYNDROME

Low match WEAVER SYNDROME; WVS

Weaver syndrome comprises pre- and postnatal overgrowth, accelerated osseous maturation, characteristic craniofacial appearance, and developmental delay. Most cases are sporadic, although autosomal dominant inheritance has been reported. Although there is phenotypic overlap between Weaver syndrome and Sotos syndrome (OMIM ), distinguishing features of Weaver syndrome include broad forehead and face, ocular hypertelorism, prominent wide philtrum, micrognathia, deep horizontal chin groove, and deep-set nails. In addition, carpal bone development is advanced over the rest of the hand in Weaver syndrome, whereas in Sotos syndrome carpal bone development is at or behind that of the rest of the hand (summary by Basel-Vanagaite, 2010).The 'Weaver-like' syndrome reported by Stoll et al. (1985) in a mother and son may be a separate entity.Sotos syndrome (OMIM ), which shows considerable phenotypic overlap with Weaver syndrome, is caused by mutation in the NSD1 gene (OMIM ) on chromosome 5q35.

WEAVER SYNDROME; WVS Is also known as weaver-smith syndrome;wss

Related symptoms:

  • Autosomal dominant inheritance
  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia


SOURCES: OMIM ORPHANET

More info about WEAVER SYNDROME; WVS

Low match COSTELLO SYNDROME; CSTLO

Costello syndrome is a rare multiple congenital anomaly syndrome associated in all cases with a characteristic coarse facies, short stature, distinctive hand posture and appearance, severe feeding difficulty, and failure to thrive. Other features include cardiac anomalies and developmental disability. Facial warts, particularly nasolabial, are often present in childhood (Kerr et al., 2006).In patients with a clinical diagnosis of Costello syndrome, Zenker et al. (2007) identified mutations in the KRAS gene, but noted that these patients may later develop features of CFC syndrome. In either case, the findings underscore the central role of Ras in the pathogenesis of these phenotypically related disorders (Zenker et al., 2007). However, Kerr et al. (2008) commented that the diagnosis of Costello syndrome should only be used to refer to patients with mutations in the HRAS gene.

COSTELLO SYNDROME; CSTLO Is also known as faciocutaneoskeletal syndrome, fcs syndrome;fcs syndrome; faciocutaneoskeletal syndrome

Related symptoms:

  • Autosomal dominant inheritance
  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature


SOURCES: DOID OMIM MONDO GARD SCTID ORPHANET MESH UMLS NCIT

More info about COSTELLO SYNDROME; CSTLO

Low match RUBINSTEIN-TAYBI SYNDROME 1; RSTS1

Rubinstein-Taybi syndrome is a multiple congenital anomaly syndrome characterized by mental retardation, postnatal growth deficiency, microcephaly, broad thumbs and halluces, and dysmorphic facial features. The facial appearance is striking, with highly arched eyebrows, long eyelashes, downslanting palpebral fissures, broad nasal bridge, beaked nose with the nasal septum, highly arched palate, mild micrognathia, and characteristic grimacing or abnormal smile. Affected individuals also have an increased risk of tumor formation (Rubinstein and Taybi, 1963; review by Hennekam, 2006).Floating-Harbor syndrome (OMIM ), which shows phenotypic overlap with Rubinstein-Taybi syndrome, is caused by mutation in the SRCAP gene (OMIM ), a coactivator for CREBBP. Genetic Heterogeneity of Rubinstein-Taybi SyndromeRubinstein-Taybi syndrome-1 (RSTS1) constitutes about 50 to 70% of patients with the disorder. Rubinstein-Taybi syndrome-2 (RSTS2 ) comprises about 3% of patients and is primarily due to de novo heterozygous mutation in the EP300 gene (OMIM ) on chromosome 22q13 (Bartsch et al., 2010).See also chromosome 16p13.3 deletion syndrome (OMIM ), a severe form of Rubinstein-Taybi syndrome resulting from a contiguous gene deletion involving the CREBBP gene as well as other neighboring genes.

RUBINSTEIN-TAYBI SYNDROME 1; RSTS1 Is also known as rubinstein syndrome, broad thumbs and great toes, characteristic facies, and mental retardation, broad thumb-hallux syndrome

Related symptoms:

  • Autosomal dominant inheritance
  • Intellectual disability
  • Seizures
  • Short stature
  • Generalized hypotonia


SOURCES: OMIM

More info about RUBINSTEIN-TAYBI SYNDROME 1; RSTS1

Low match LEOPARD SYNDROME 1; LPRD1

LEOPARD is an acronym for the manifestations of this syndrome as listed by Gorlin et al. (1969): multiple lentigines, electrocardiographic conduction abnormalities, ocular hypertelorism, pulmonic stenosis, abnormal genitalia, retardation of growth, and sensorineural deafness. Genetic Heterogeneity of LEOPARD SyndromeLEOPARD syndrome is a genetically heterogeneous disorder. See also LEOPARD syndrome-2 (OMIM ), caused by mutation in the RAF1 gene (OMIM ), and LEOPARD syndrome-3 (OMIM ), caused by mutation in the BRAF gene (OMIM ).

LEOPARD SYNDROME 1; LPRD1 Is also known as lentiginosis, cardiomyopathic, multiple lentigines syndrome;cardiomyopathic lentiginosis; familial multiple lentigines syndrome; leopard syndrome

Related symptoms:

  • Autosomal dominant inheritance
  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Pica


SOURCES: SCTID OMIM ORPHANET UMLS

More info about LEOPARD SYNDROME 1; LPRD1

Low match HADDAD SYNDROME

Haddad syndrome is a rare congenital disorder in which congenital central hypoventilation syndrome (CCHS), or Ondine syndrome, occurs concurrently with Hirschsprung disease (see these terms).

HADDAD SYNDROME Is also known as congenital central alveolar hypoventilation-hirschsprung disease syndrome; ondine-hirschsprung disease; ondine-hirschsprung syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Strabismus
  • Failure to thrive
  • Sensorineural hearing impairment


SOURCES: ORPHANET SCTID

More info about HADDAD SYNDROME

Low match NIJMEGEN BREAKAGE SYNDROME; NBS

The Nijmegen breakage syndrome and the phenotypically indistinguishable Berlin breakage syndrome are autosomal recessive chromosomal instability syndromes characterized by microcephaly, growth retardation, immunodeficiency, and predisposition to cancer. Ataxia-telangiectasia variant-1 is the designation applied to the Nijmegen breakage syndrome and AT variant-2 is the designation for the Berlin breakage syndrome, which differ only in complementation studies. Cells from NBS/BBS patients are hypersensitive to ionizing radiation with cytogenetic features indistinguishable from those of ataxia-telangiectasia (AT ), but NBS/BBS patients have a distinct clinical phenotype.The clinical features of LIG4 syndrome (OMIM ), caused by mutation in the LIG4 gene (OMIM ), resemble those of NBS.

NIJMEGEN BREAKAGE SYNDROME; NBS Is also known as ataxia-telangiectasia variant v1;at-v1, microcephaly with normal intelligence, immunodeficiency, and lymphoreticular malignancies, seemanova syndrome ii, nonsyndromal microcephaly, autosomal recessive, with normal intelligence, immunodeficiency, microcephaly, and chromosomal instability;at v1; ataxia-telangiectasia, variant 1; berlin breakage syndrome; immunodeficiency-microcephaly-chromosomal instability syndrome; microcephaly-immunodeficiency-lymphoreticuloma syndrome; nbs; seemanova syndrome type 2

Related symptoms:

  • Autosomal recessive inheritance
  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Pica


SOURCES: ORPHANET DOID NCIT MESH GARD MONDO SCTID OMIM UMLS

More info about NIJMEGEN BREAKAGE SYNDROME; NBS

Top 5 symptoms//phenotypes associated to Delayed speech and language development and Neuroblastoma

Symptoms // Phenotype % cases
Intellectual disability Very Common - Between 80% and 100% cases
Pica Common - Between 50% and 80% cases
Autosomal dominant inheritance Common - Between 50% and 80% cases
Neoplasm Common - Between 50% and 80% cases
Cryptorchidism Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Delayed speech and language development and Neuroblastoma. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Strabismus

Uncommon Symptoms - Between 30% and 50% cases


Generalized hypotonia

Common Symptoms - More than 50% cases


Seizures

Uncommon Symptoms - Between 30% and 50% cases


Global developmental delay

Common Symptoms - More than 50% cases


Short stature

Uncommon Symptoms - Between 30% and 50% cases


Abnormality of cardiovascular system morphology

Common Symptoms - More than 50% cases


Scoliosis

Uncommon Symptoms - Between 30% and 50% cases


Hypertelorism

Common Symptoms - More than 50% cases


Depressed nasal bridge

Uncommon Symptoms - Between 30% and 50% cases


Epicanthus Hearing impairment Downslanted palpebral fissures Gastroesophageal reflux Frontal bossing Abnormal heart morphology Hypospadias Growth delay High palate Micrognathia Nevus Low-set ears Motor delay Abnormal facial shape Edema Wide anterior fontanel Polyhydramnios Microcephaly Hypertension Macrocephaly Ventriculomegaly Feeding difficulties in infancy Cleft palate Conductive hearing impairment Leukemia Delayed skeletal maturation Hypoplasia of dental enamel Otitis media Muscular hypotonia Overgrowth Failure to thrive Pointed chin Rhabdomyosarcoma Sporadic Joint laxity Mandibular prognathia Behavioral abnormality Ventricular septal defect Cutis laxa Abnormality of the skeletal system Posteriorly rotated ears Wide nasal bridge Upslanted palpebral fissure Short neck Low-set, posteriorly rotated ears Flexion contracture Cafe-au-lait spot Sensorineural hearing impairment Lymphedema Abnormality of the pinna Hydrocephalus Midface retrusion Obesity Abnormality of the nervous system Redundant skin Obstructive sleep apnea Hernia Abnormality of the face Abnormality of the genital system Lymphoma Cardiomyopathy Dysphagia Narrow mouth Myopathy Brachycephaly Joint hypermobility Hyperreflexia Sarcoma Ptosis Intellectual disability, mild Hypertrichosis Long philtrum Atrial septal defect Arrhythmia Patent ductus arteriosus Coma Prominent forehead Oxycephaly Pulmonic stenosis Macrotia Inguinal hernia Coarse facial features Intellectual disability, moderate Retrognathia Hypertrophic cardiomyopathy Abnormality of the kidney Proptosis Pectus excavatum

Rare Symptoms - Less than 30% cases


Optic atrophy Macroglossia Vesicoureteral reflux Sacrococcygeal teratoma Apraxia Dilation of lateral ventricles Carcinoma Premature birth Amenorrhea Tall stature Heterotopia Broad thumb Teratoma Arnold-Chiari malformation Poor coordination Intrauterine growth retardation Nephroblastoma Large hands Hoarse voice Hypermetropia Abnormal dermatoglyphics Pes planus Aggressive behavior Accelerated skeletal maturation Melanocytic nevus Hyperactivity Overweight Cataract Medulloblastoma Neurological speech impairment Deeply set eye Hypoglycemia Hyperhidrosis Cleft upper lip Delayed cranial suture closure Talipes equinovarus Hepatomegaly Depressed nasal ridge Coloboma Pachygyria Horizontal eyebrow Telangiectasia Stereotypy Metatarsus adductus Immunodeficiency Glioma Bicuspid aortic valve Pyloric stenosis Camptodactyly Nystagmus Cognitive impairment Hypothyroidism Tics Kyphosis Clinodactyly of the 5th finger Pes cavus Agenesis of corpus callosum Cerebral cortical atrophy Constipation Absent speech Hypogonadism Mitral regurgitation Wide mouth Autism Low anterior hairline EEG abnormality Aganglionic megacolon Self-mutilation Spina bifida occulta Absent septum pellucidum Hydronephrosis Respiratory tract infection Sparse hair Prominent nose Freckling Respiratory insufficiency Megalencephaly Back pain Small for gestational age Limited elbow extension Generalized hirsutism Infantile muscular hypotonia Severe short stature Abnormality of the dentition Mitral valve prolapse Hamartoma Sleep apnea Abnormality of the musculature Anal stenosis Thin nail Overlapping toe Respiratory failure Laryngomalacia Brachydactyly Deep-set nails Pain Apnea Hyperextensible skin Sleep disturbance Lower limb asymmetry Acanthosis nigricans Narrow palate Tetraparesis Epidermal acanthosis Recurrent urinary tract infections Abnormality of the hair Prominent fingertip pads Spinal canal stenosis Malar flattening Webbed neck Hypopnea Blepharophimosis Microtia Hypoplastic iliac wing Thoracolumbar kyphosis Pectus carinatum Acute lymphoblastic leukemia Enlarged tonsils Large earlobe Central sleep apnea Convex nasal ridge Central apnea Limited elbow movement Postnatal growth retardation Abnormality of the skin Full cheeks Delayed puberty Hypoplasia of the corpus callosum Umbilical hernia Abnormality of dental enamel Hyperpigmentation of the skin Loose anagen hair Postural instability Abnormality of the fingernails Atrial fibrillation Hydrops fetalis Poor suck Relative macrocephaly Hirsutism Hypoplastic toenails Recurrent fractures Alveolar rhabdomyosarcoma Polydactyly Myofiber disarray Asthma Eczema Tetraplegia Ascites Glaucoma Thick eyebrow Iris coloboma Syndactyly Unsteady gait Heterogeneous Respiratory distress Hypoplasia of the maxilla Systolic heart murmur Single transverse palmar crease Thickened Achilles tendon Congenital neuroblastoma Highly arched eyebrow Hematuria Multifocal atrial tachycardia Thin upper lip vermilion Enlarged cerebellum Thick lower lip vermilion Cardiomyocyte hypertrophy Failure to thrive in infancy Fragile nails Shyness Achilles tendon contracture Progeroid facial appearance Sudden death Woolly hair Hematemesis Lack of skin elasticity Bladder neoplasm Ulnar deviation of the wrist Labial hypoplasia Verrucae Postprandial hyperglycemia Melena Fasting hypoglycemia Arnold-Chiari type I malformation Capillary malformation Deep palmar crease Concave nail Duodenal ulcer Redundant neck skin Asymmetric septal hypertrophy Pneumothorax Schwannoma Bronchomalacia Triangular mouth Deep plantar creases Large face Hypoplasia of teeth Barrel-shaped chest Soft skin Hyperglycemia Syringomyelia Bilateral cryptorchidism Papilloma Reduced subcutaneous adipose tissue Abnormality of the vasculature Ulnar deviation of finger Generalized hyperpigmentation Keratoconus Curly hair Fetal distress Tracheomalacia Vitreomacular adhesion Bladder carcinoma Microscopic hematuria Central hypotonia Transitional cell carcinoma of the bladder Acanthoma Ganglioneuroblastoma Thickened nuchal skin fold Macrocephaly at birth Severe postnatal growth retardation Body odor Heart murmur Frontal hirsutism Vestibular Schwannoma Embryonal rhabdomyosarcoma Neonatal sepsis Choroid plexus papilloma Concentric hypertrophic cardiomyopathy Rhabdomyolysis Hyperextensibility of the finger joints Vascular ring Dental malocclusion Skeletal muscle atrophy Central hypoventilation Breathing dysregulation Ganglioneuroma Autosomal recessive inheritance Ataxia Muscle weakness Diarrhea Decreased fetal movement Thrombocytopenia Pneumonia Recurrent respiratory infections Mental deterioration Anal atresia Prominent nasal bridge Attention deficit hyperactivity disorder Abnormal autonomic nervous system physiology Oligohydramnios Sloping forehead Multiple lentigines Aplasia/Hypoplasia of the abdominal wall musculature Hyposmia Subvalvular aortic stenosis Excessive wrinkled skin Abnormality of the pulmonary artery Abnormal mitral valve morphology Abnormal pulmonary valve morphology Death in infancy Parietal bossing Hypoplasia of the ovary Third degree atrioventricular block Abnormal endocardium morphology Delayed menarche Coronary artery aneurysm Aplasia of the ovary Hemolytic anemia Neurodegeneration Severe sensorineural hearing impairment Recurrent infection of the gastrointestinal tract Abnormal hair quantity Abnormality of chromosome stability Decrease in T cell count B lymphocytopenia B-cell lymphoma Pollakisuria Anorectal anomaly Recurrent bronchitis Penoscrotal hypospadias Scrotal hypospadias Dysgammaglobulinemia Malar prominence Abnormal T cell morphology Mastoiditis T-cell lymphoma Recurrent sinopulmonary infections Acute leukemia Recurrent pneumonia Cachexia Primary amenorrhea Cutaneous photosensitivity Choanal atresia Bronchiectasis Sinusitis Chronic diarrhea Lymphopenia Deep philtrum Abnormal eyelid morphology Premature ovarian insufficiency Non-midline cleft lip Long nose Abnormality of neuronal migration Combined immunodeficiency Autoimmune hemolytic anemia Hearing abnormality Abnormal localization of kidney Missing ribs Low posterior hairline Avascular necrosis of the capital femoral epiphysis Low hanging columella Flared iliac wings Pheochromocytoma Abnormality of refraction Nasolacrimal duct obstruction Broad distal phalanx of finger Phonophobia Short attention span Frontal upsweep of hair Abnormal cornea morphology Bimanual synkinesia Short upper lip Facial grimacing Abnormality of the cervical spine Parietal foramina Dyslexia Meningioma Duane anomaly Fibroma Coarctation of aorta Dental crowding Exotropia Long eyelashes Recurrent upper respiratory tract infections Encephalitis Broad hallux Patellar dislocation Truncal obesity Impulsivity Dislocated radial head Congenital glaucoma Neurofibromas Shawl scrotum Capillary hemangioma Dyscalculia Tethered cord Sprengel anomaly Abnormality of the voice Protruding ear Ranula Triangular face Subcutaneous nodule Myocardial infarction Scapular winging Mutism Micropenis Cubitus valgus Myelodysplasia Melanoma Unilateral renal agenesis Decreased fertility Atrioventricular canal defect Bundle branch block Kyphoscoliosis Alopecia Keloids Large foramen magnum Chorioretinal dystrophy Bifid uterus Duplication of phalanx of hallux Sepsis Agoraphobia Narrow maxilla Premature thelarche Talon cusp Dilatation Papillary cystadenoma of the epididymis Esophageal obstruction High axial triradius Deviated nasal septum Abnormal number of teeth Radial deviation of thumb terminal phalanx Plantar crease between first and second toes Thick vermilion border Large fontanelles Tachycardia Jaundice Long foot Agenesis of permanent teeth Prolonged neonatal jaundice Partial agenesis of the corpus callosum Precocious puberty Reduced number of teeth Abnormal vertebral morphology Small nail Renal agenesis Hypodontia High, narrow palate Genu valgum Dolichocephaly Neonatal hypotonia Lumbar kyphosis in infancy High anterior hairline Cervical myelopathy Myelopathy Hypoxemia Cor pulmonale Multiple epiphyseal dysplasia Neonatal short-limb short stature Chronic myelogenous leukemia Obstructive lung disease Spinal stenosis with reduced interpedicular distance Cervical cord compression Iritis Small foramen magnum Brain stem compression Limited hip extension Trident hand Enlarged cisterna magna Periventricular leukomalacia Generalized joint laxity Abnormal cardiac septum morphology Hypsarrhythmia Abnormal blistering of the skin Optic disc pallor Hip dysplasia Tetralogy of Fallot Hypoplasia of penis Delayed myelination Bifid uvula Poor speech Short foot Hepatic steatosis Polymicrogyria Renal cyst Dilated cardiomyopathy Abnormality of the liver Advanced eruption of teeth Gray matter heterotopias Overbite Cavum septum pellucidum Hamartomatous polyposis Hyperplasia of the maxilla Abnormal glucose tolerance Expressive language delay Small cell lung carcinoma Synophrys Abnormality of the cerebral ventricles Visual impairment Myopia Gait disturbance Camptodactyly of finger Joint stiffness Communicating hydrocephalus Dysuria Macule Phimosis Increased number of skin folds Abnormality of the scrotum Upper limb asymmetry Median cleft palate Broad eyebrow Ureterocele Periorbital fullness Hypoplastic nipples Irregular hyperpigmentation External ear malformation Cerebellar vermis atrophy Long fingers Tricuspid regurgitation Lipoma Overfolded helix Anemia Flat face Microphthalmia Congestive heart failure High forehead Telecanthus Retinopathy Severe global developmental delay Microcornea Scrotal hypoplasia Wide intermamillary distance Febrile seizures Short palpebral fissure Dandy-Walker malformation Thickened skin Optic nerve hypoplasia Localized neuroblastoma Arthralgia Upper airway obstruction Tinnitus Spinal cord compression Myelitis Myeloid leukemia Osteopetrosis Small face Disproportionate short stature Hip contracture Bowel incontinence Disproportionate short-limb short stature Flared metaphysis Short femoral neck Tibial bowing Chronic otitis media Spondyloepiphyseal dysplasia Genu varum Rigidity Scarring Skeletal dysplasia Weight loss Hyperlordosis Clonus Cleft lip Acrania Oral cleft Paraparesis Lumbar hyperlordosis Confusion Recurrent otitis media Rhizomelia Epiphyseal dysplasia Abnormal lung morphology Hepatitis Spastic tetraparesis Wide nose Broad philtrum Hepatoblastoma Visceromegaly Urogenital fistula Lumbar kyphosis Calcaneovalgus deformity Poor fine motor coordination Galactorrhea Choroideremia Asymmetric growth Otosclerosis Abnormality of earlobe Dimple chin Pseudohypoparathyroidism Ureteral duplication Hemihypertrophy Adrenocortical carcinoma Hydrocele testis Prominent metopic ridge Enlarged kidney Inverted nipples Polycythemia Prolactin excess Exocrine pancreatic insufficiency Neonatal hypoglycemia Diastasis recti Down-sloping shoulders Multiple renal cysts Neurodevelopmental delay Nevus flammeus Gonadoblastoma Broad face Elevated alpha-fetoprotein Short fourth metatarsal Large for gestational age Dysharmonic bone age Joint hyperflexibility Arthrogryposis multiplex congenita Irritability Hyperkeratosis Osteoporosis Vomiting Cerebral atrophy Renal insufficiency Short nose Anteverted nares Feeding difficulties Subchorionic septal cyst Prominent digit pad Large intestinal polyposis Adrenocortical cytomegaly Infra-orbital crease Large placenta Leiomyosarcoma Vertebral wedging Facial hemangioma Branchial cyst Anterior creases of earlobe Flared femoral metaphysis Posterior helix pit Narrow nail Abnormally low-pitched voice Congenital megaureter Flared humeral metaphysis Limited knee extension Abnormality of pancreas morphology Abnormality of the shape of the midface Secondary amenorrhea Slurred speech Hypercholesterolemia Abnormal heart valve morphology Abnormality of the spleen Left ventricular noncompaction Thickened helices 11 pairs of ribs Rib fusion Delayed CNS myelination Delayed closure of the anterior fontanelle Optic nerve coloboma Abnormality of the neck Short 5th finger Ocular albinism Abnormal eyebrow morphology Aortic root aneurysm Foot polydactyly High hypermetropia Impaired social interactions Abnormality of the immune system Cranial nerve paralysis Abnormality of vision Leukoencephalopathy Patent foramen ovale Hemiplegia/hemiparesis Abnormal intestine morphology Dysphasia Congenital hypothyroidism Self-injurious behavior Facial cleft Polyphagia Submucous cleft hard palate Infantile spasms Abnormal lung lobation Abnormality of female external genitalia Abnormality of the anus Prominent occiput Joint contracture of the hand Nephropathy Nail dysplasia Congenital diaphragmatic hernia Fine hair Omphalocele Nephrolithiasis Cardiomegaly Talipes Short ribs Coxa valga Hypercalciuria Radial deviation of finger Flat occiput Bilateral talipes equinovarus Round face Platyspondyly Annular pancreas Abnormality of the hairline Aortic arch aneurysm Cranial nerve VI palsy Asymmetry of the ears Oppositional defiant disorder Bifid ribs Noncompaction cardiomyopathy Ebstein anomaly of the tricuspid valve Broad forehead Agenesis of the anterior commissure Spasticity Dysarthria Splenomegaly Hypertonia Clinodactyly Progressive vitiligo



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