Fever, and Micromelia

Diseases related with Fever and Micromelia

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

Top matches:

Stüve-Wiedemann syndrome (SWS) is a rare autosomal recessive congenital primary skeletal dysplasia, characterized by small stature, bowing of the long bones, camptodactyly, hyperthermic episodes, respiratory distress/apneic episodes and feeding difficulties that usually lead to early mortality.

STÜVE-WIEDEMANN SYNDROME Is also known as neonatal schwartz-jampel syndrome|stÜve-wiedemann dysplasia|sjs2|schwartz-jampel syndrome type 2

Related symptoms:

  • Short stature
  • Scoliosis
  • Muscular hypotonia
  • Flexion contracture
  • Intrauterine growth retardation


SOURCES: ORPHANET MENDELIAN

More info about STÜVE-WIEDEMANN SYNDROME

Perinatal lethal hypophosphatasia (PL-HPP) is a very rare form of hypophosphatasia (see this term) characterized by markedly impaired bone mineralization in utero due to reduced activity of serum alkaline phosphatase (ALP) and causing stillbirth or respiratory failure within days of birth.

PERINATAL LETHAL HYPOPHOSPHATASIA Is also known as hops|perinatal lethal rathburn disease|phosphoethanolaminuria|perinatal lethal phosphoethanolaminuria

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Microcephaly
  • Failure to thrive
  • Muscular hypotonia


SOURCES: ORPHANET OMIM MENDELIAN

More info about PERINATAL LETHAL HYPOPHOSPHATASIA

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

Other less relevant matches:

The Cornelia de Lange syndrome (CDLS) is a multisystem malformation syndrome recognized primarily on the basis of characteristic facial dysmorphism, including low anterior hairline, arched eyebrows, synophrys, anteverted nares, maxillary prognathism, long philtrum, thin lips, and 'carp' mouth, in association with prenatal and postnatal growth retardation, mental retardation and, in many cases, upper limb anomalies. However, there is wide clinical variability in this disorder, with milder phenotypes that may be difficult to ascertain on the basis of physical features (summary by Rohatgi et al., 2010).Boyle et al. (2015) provided a detailed review of CDLS, including clinical features, diagnosis, and genetic counseling. Genetic Heterogeneity of Cornelia de Lange SyndromeAbout 50 to 60% of the cases of CDLS are due to mutation in the NIPBL gene (Musio et al., 2006; Rohatgi et al., 2010).One X-linked form of CDLS (CDLS2 ) is caused by mutation in the SMC1A gene (OMIM ), which accounts for about 5% of cases. Two milder variants of Cornelia de Lange syndrome have been identified: CDLS3 (OMIM ), caused by mutation in the SMC3 gene (OMIM ), and CDLS4 (OMIM ), caused by mutation in the RAD21 gene (OMIM ). All 4 genes, NIPBL, SMC1A, SMC3, and RAD21, encode components of the cohesin complex. Another X-linked form, CDLS5 (OMIM ), is caused by mutation in the HDAC8 gene (OMIM ), the vertebrate histone deacetylase of SMC3.

CORNELIA DE LANGE SYNDROME 1; CDLS1 Is also known as typus degenerativus amstelodamensis|brachmann-de lange syndrome|cdl|de lange syndrome|cdls|bdls

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about CORNELIA DE LANGE SYNDROME 1; CDLS1

Smith-Lemli-Opitz syndrome (SLOS) is characterized by multiple congenital anomalies, intellectual deficit, and behavioral problems.

SMITH-LEMLI-OPITZ SYNDROME Is also known as rutledge lethal multiple congenital anomaly syndrome|slos|lethal acrodysgenital syndrome|rsh syndrome|slo syndrome|7-dehydrocholesterol reductase deficiency|polydactyly, sex reversal, renal hypoplasia, and unilobar lung

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about SMITH-LEMLI-OPITZ SYNDROME

Schwartz-Jampel syndrome (SJS) is characterised by myotonia and osteoarticular abnormalities.

SCHWARTZ-JAMPEL SYNDROME Is also known as myotonic chondrodystrophy|schwartz-jampel-aberfeld syndrome|burton skeletal dysplasia|sjs|myotonic myopathy, dwarfism, chondrodystrophy, ocular and facial anomalies|dysostosis enchondralis metaepiphysaria, catel-hempel type|burton syndrome|aberfeld syndro

Related symptoms:

  • Intellectual disability
  • Short stature
  • Microcephaly
  • Scoliosis
  • Hypertelorism


SOURCES: ORPHANET MENDELIAN

More info about SCHWARTZ-JAMPEL SYNDROME

X-linked Charcot-Marie-Tooth disease type 1 is a rare, genetic, peripheral sensorimotor neuropathy characterized by an X-linked dominant inheritance pattern and the childhood-onset (within the first decade in males) of progressive, distal, moderate to severe muscle weakness and atrophy in lower extremities and intrinsic hand muscles, pes cavus, bilateral foot drop, reduced or absent tendon reflexes, as well as mild to moderate sensory impairment in lower extremities. Females tend to have milder manifestations or may be asymptomatic. Sensorineural deafness and central nervous system involvement have also been reported.

X-LINKED CHARCOT-MARIE-TOOTH DISEASE TYPE 1 Is also known as cmt2, formerly|cmt1x|charcot-marie-tooth peroneal muscular atrophy, x-linked|cmtx1|cmtx|charcot-marie-tooth neuropathy, x-linked, 1|hereditary motor and sensory neuropathy, x-linked|hmsn, x-linked

Related symptoms:

  • Hearing impairment
  • Scoliosis
  • Ataxia
  • Nystagmus
  • Sensorineural hearing impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about X-LINKED CHARCOT-MARIE-TOOTH DISEASE TYPE 1

Low match TMEM165-CDG

TMEM165-CDG is a form of congenital disorders of N-linked glycosylation characterized by a psychomotor delay-dysmorphism (pectus carinatum, dorsolumbar kyphosis and severe sinistroconvex scoliosis, short distal phalanges, genua vara, pedes planovalgi syndrome) with postnatal growth deficiency and major spondylo-, epi-, and metaphyseal skeletal involvement. Additional features include facial dysmorphism (midface hypoplasia, internal strabism of the right eye, low-set ears, moderately high arched palate, small teeth), nephrotic syndrome, cardiac defects, and feeding problems. The disease is caused by mutations in the gene TMEM165 (4q12).

TMEM165-CDG Is also known as congenital disorder of glycosylation type 2k|cdg iik|cdg2k|congenital disorder of glycosylation type iik|cdg-iik|cdgiik|cdg syndrome type iik|carbohydrate deficient glycoprotein syndrome type iik

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Microcephaly


SOURCES: OMIM ORPHANET MENDELIAN

More info about TMEM165-CDG

Larsen-like syndrome, B3GAT3 type is a rare, genetic, primary bone dysplasia characterized by laxity, dislocations and contractures of the joints, short stature, foot deformities (e.g. clubfeet), broad tips of fingers and toes, short neck, dysmorphic facial features (hypertelorism, downslanting palpebral fissures, upturned nose with anteverted nares, high arched palate) and various cardiac malformations. Severe disease is associated with multiple fractures, osteopenia, arachnodactyly and blue sclerae. A broad spectrum of additional features, including scoliosis, radio-ulnar synostosis, mild developmental delay, and various eye disorders (glaucoma, amblyopia, hyperopia, astigmatism, ptosis), are also reported.

LARSEN-LIKE SYNDROME, B3GAT3 TYPE Is also known as multiple joint dislocations-short stature-craniofacial dysmorphism-congenital heart defects syndrome|larsen syndrome, autosomal recessive, formerly

Related symptoms:

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


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about LARSEN-LIKE SYNDROME, B3GAT3 TYPE

Stuve-Wiedemann syndrome (STWS) is an autosomal recessive disorder characterized by bowing of the long bones and other skeletal anomalies, episodic hyperthermia, and respiratory and feeding distress usually resulting in early death (Dagoneau et al., 2004).See also 'classic' Schwartz-Jampel syndrome type 1 (SJS1 ), a phenotypically similar but genetically distinct disorder caused by mutation in the HSPG2 gene (OMIM ) on chromosome 1p36.

STUVE-WIEDEMANN SYNDROME Is also known as sws|schwartz-jampel syndrome, type 2|stws|stuve-wiedemann/schwartz-jampel type 2 syndrome|schwartz-jampel syndrome, neonatal|sjs2

Related symptoms:

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Scoliosis
  • Growth delay


SOURCES: OMIM ORPHANET MENDELIAN

More info about STUVE-WIEDEMANN SYNDROME

Top 5 symptoms//phenotypes associated to Fever and Micromelia

Symptoms // Phenotype % cases
Short stature Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Scoliosis Common - Between 50% and 80% cases
Growth delay Common - Between 50% and 80% cases
Micrognathia Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Fever and Micromelia. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases

Abnormal facial shape

Uncommon Symptoms - Between 30% and 50% cases

Low-set ears

Common Symptoms - More than 50% cases

Short neck

Uncommon Symptoms - Between 30% and 50% cases

Microcephaly

Common Symptoms - More than 50% cases

Seizures

Uncommon Symptoms - Between 30% and 50% cases

Global developmental delay

Common Symptoms - More than 50% cases

Flexion contracture

Uncommon Symptoms - Between 30% and 50% cases

Skeletal dysplasia

Common Symptoms - More than 50% cases

Osteoporosis

Uncommon Symptoms - Between 30% and 50% cases

Talipes equinovarus Apnea High palate Hearing impairment Muscular hypotonia Intellectual disability Cleft palate Failure to thrive Abnormality of the skeletal system Elbow flexion contracture Severe short stature Delayed skeletal maturation Hypertonia Ventricular septal defect Respiratory distress Anteverted nares Hip dislocation Downslanted palpebral fissures Depressed nasal bridge Intrauterine growth retardation Sensorineural hearing impairment Glaucoma Proptosis Abnormality of the urinary system Hypertelorism Ptosis Bowing of the long bones Strabismus Long philtrum Wide nasal bridge Myopia Cryptorchidism Hydrocephalus Feeding difficulties Abnormal heart morphology Inguinal hernia Narrow mouth Pulmonary hypoplasia Webbed neck Hypertension Single transverse palmar crease Respiratory insufficiency Renal cyst Malar flattening Nystagmus Rhizomelia Posteriorly rotated ears Midface retrusion Renal hypoplasia Muscle weakness Kyphosis Limb undergrowth Congenital diaphragmatic hernia Retrognathia Atrial septal defect Upper limb undergrowth Oligohydramnios Genu valgum Hyperhidrosis Platyspondyly Vomiting Recurrent fractures Blue sclerae Impaired pain sensation Abnormality of the dentition Anemia Sacral dimple Knee flexion contracture Feeding difficulties in infancy Osteopenia Abnormality of the metaphysis Polyhydramnios

Rare Symptoms - Less than 30% cases

Hypoplasia of the frontal lobes Myotonia Enlarged metaphyses Mask-like facies Shoulder flexion contracture Episodic fever Pathologic fracture Metaphyseal widening Abnormal autonomic nervous system physiology Abnormally ossified vertebrae Choanal atresia Kyphoscoliosis Femoral bowing Low-set, posteriorly rotated ears Abnormality of the metacarpal bones Trismus Patent ductus arteriosus Elbow dislocation Recurrent infections Talipes Pectus carinatum Short nose Hypothyroidism Macrocephaly Frontal bossing Low posterior hairline Cataract Hip contracture Severe intrauterine growth retardation Pulmonary arterial hypertension Hoarse voice Hypertropia 11 pairs of ribs Joint laxity Abnormality of digit Optic atrophy Motor delay Autistic behavior Prominent nasal bridge Self-injurious behavior Pulmonic stenosis Toe syndactyly Pyloric stenosis Incoordination Thick eyebrow Peripheral neuropathy Camptodactyly Small hand Abnormality of the foot Sleep disturbance Microcornea Abnormality of the cerebral white matter Low anterior hairline Dysphagia Microdontia Proximal placement of thumb Sensorimotor neuropathy Flexion contracture of toe Prominent forehead Intellectual disability, severe Behavioral abnormality Pes planus Syndactyly Thrombocytopenia Hernia Hypospadias Clinodactyly Brachycephaly Aggressive behavior Hyperactivity Autism 2-3 toe syndactyly Gastroesophageal reflux Pursed lips Hypoglycemia Cutis marmorata Paraparesis Attention deficit hyperactivity disorder Flat face Short thumb Hypoplasia of the corpus callosum Rickets Respiratory failure Aplasia/Hypoplasia affecting the eye Spasticity Amblyopia Small for gestational age Brachydactyly Corneal opacity Microtia Craniosynostosis Irritability Constipation Thickened cortex of long bones Postnatal growth retardation Clinodactyly of the 5th finger Abnormality of the pinna Abnormality of the kidney Cerebellar hypoplasia Abnormality of the nervous system Hydronephrosis Pain Polydactyly Abnormality of dental enamel Smooth tongue Micropenis Metatarsus adductus Absent patellar reflexes Abnormality of the ribs Short metacarpal Elevated serum creatine phosphokinase Abnormal form of the vertebral bodies Hyporeflexia Ulnar deviation of finger Peripheral demyelination Patent foramen ovale Coarctation of aorta Gait disturbance Skeletal muscle atrophy Excessive daytime somnolence Increased number of teeth Premature birth Decreased fetal movement Overlapping fingers Ataxia Mesomelic short stature Long eyelashes in irregular rows Cerebellar atrophy Tracheal stenosis Sclerocornea Broad alveolar ridges Tremor Bicornuate uterus Male pseudohermaphroditism Elevated aldolase level Severe failure to thrive Microglossia Protrusio acetabuli Median cleft palate Breech presentation Metatarsus valgus Gastroschisis Prenatal movement abnormality Ureteropelvic junction obstruction Abnormal localization of kidney Odontogenic neoplasm Hypocholesterolemia Sex reversal Decreased circulating aldosterone level Advanced eruption of teeth Hyperreflexia Gastrointestinal dysmotility Testicular torsion Ectopic calcification Abnormally straight spine Dysarthria Abnormality of the larynx Cholestatic liver disease Increased nuchal translucency Bifid tongue Abnormal renal morphology Blepharospasm Hip subluxation Full cheeks Opsoclonus EMG abnormality Facial capillary hemangioma Abnormality of limbs Increased bone mineral density Abnormality of epiphysis morphology Nephrolithiasis Decreased body weight Decreased testicular size Hip dysplasia Dental malocclusion Everted lower lip vermilion Generalized hirsutism Elevated 7-dehydrocholesterol Arthrogryposis multiplex congenita Neurological speech impairment Visual impairment Blepharophimosis Myopathy Pectus excavatum Arrhythmia Joint stiffness Hyperlordosis Anxiety Myalgia Severe photosensitivity Alveolar ridge overgrowth Weak voice Abnormality of immune system physiology Increased serum testosterone level Wrist flexion contracture Distichiasis Talipes calcaneovalgus Abnormality of the pharynx Umbilical hernia Periventricular gray matter heterotopia Abnormal eyebrow morphology Malignant hyperthermia Sprengel anomaly Abnormality of the ureter Abnormality of the gallbladder Coxa valga Spinal rigidity High pitched voice Skeletal muscle hypertrophy Overfolded helix Ectopia lentis Cachexia Dysphonia Laryngomalacia Coxa vara Septate vagina Sleep-wake cycle disturbance Wormian bones Cubitus valgus Toe walking Areflexia Elevated pulmonary artery pressure Square face Endocardial fibroelastosis Deep palmar crease Small face Generalized osteoporosis Abnormally large globe Aortic root aneurysm Narrow nasal bridge Mitochondrial respiratory chain defects Restrictive ventilatory defect Congenital glaucoma Thoracic hypoplasia Bilateral talipes equinovarus Spondyloepiphyseal dysplasia Radioulnar synostosis Lumbar scoliosis Meningitis Mitral valve prolapse Cardiomegaly Mitral regurgitation Abnormal lung morphology Left ventricular hypertrophy Lymphedema Joint dislocation Hyperextensible skin Microretrognathia Accelerated skeletal maturation Sandal gap Cutis laxa Bicuspid aortic valve Contracture of the proximal interphalangeal joint of the 5th finger Abnormality of the abdominal wall Knee dislocation Arachnodactyly Thin skin Flared metaphysis Metacarpophalangeal joint hyperextensibility Bilateral elbow dislocations Visual loss Hepatic failure Short palpebral fissure Short phalanx of finger Hypokinesia Narrow face Aminoaciduria Spastic paraparesis Opacification of the corneal stroma Adducted thumb Nasal speech Tibial bowing Thin ribs Multiple skeletal anomalies Talipes valgus Talipes equinovalgus Multiple joint dislocation Shoulder dislocation Accessory carpal bones Prominent antitragus Spatulate thumbs Broad long bones Short tibia Temperature instability Broad distal phalanges of all fingers Wide nasal base Ulnar deviation of the hand Enlarged joints Megaloblastic anemia Esotropia Narrow chest Babinski sign Broad ischia Cranial nerve paralysis Dysdiadochokinesis Language impairment Congenital contracture Abnormal metaphyseal trabeculation Decreased motor nerve conduction velocity Aphasia Frequent falls Shivering Increased upper to lower segment ratio Axonal degeneration Hypoplastic iliac body Lower limb hyperreflexia Decreased number of peripheral myelinated nerve fibers Limb ataxia Tetraparesis Onion bulb formation Dysmetria Pulmonary arterial medial hypertrophy Pes cavus Difficulty walking Distal muscle weakness Limb muscle weakness Lower limb muscle weakness Peripheral axonal neuropathy Intention tremor Falls Blotching pigmentation of the skin Distal amyotrophy Distal sensory impairment Sensory neuropathy Abnormal cerebellum morphology Axonal loss Hyperventilation Hypermetropia Beaking of vertebral bodies Epiphyseal dysplasia Metaphyseal dysplasia Protruding tongue Amelogenesis imperfecta Broad neck Premature skin wrinkling Toenail dysplasia Postnatal microcephaly Anterior pituitary hypoplasia Diaphyseal dysplasia Unexplained fevers Congestive heart failure Cerebral cortical atrophy Abnormal cardiac septum morphology Shock Depressed nasal ridge Hand tremor Abnormal nerve conduction velocity Distal lower limb amyotrophy Postaxial foot polydactyly Spinocerebellar tract degeneration Absent Achilles reflex Abnormality of peripheral nerve conduction Pseudobulbar paralysis Peripheral axonal degeneration Waddling gait Distal upper limb amyotrophy Motor aphasia Hepatomegaly Hepatosplenomegaly Elevated hepatic transaminase Growth hormone deficiency Achilles tendon contracture Hypoplastic male external genitalia Self-mutilation Long nose Flat acetabular roof Abnormality of finger Delayed epiphyseal ossification Thickened nuchal skin fold Arachnoid cyst Epileptic spasms Submucous cleft hard palate Short humerus Osteomalacia Broad palm Disproportionate short stature Prolonged neonatal jaundice Partial agenesis of the corpus callosum Cortical gyral simplification Short femur Prominent occiput Hydroureter Multiple joint contractures Diabetes insipidus Large hands Preaxial polydactyly Lissencephaly Sparse eyelashes Absence seizures Short chin Muscle stiffness Bilateral single transverse palmar creases Sparse and thin eyebrow Heterotopia Long foot Hypoplastic ilia Sparse scalp hair Loss of eyelashes Mandibular prognathia Pneumonia Headache Cardiomyopathy Delayed speech and language development Neoplasm Bifid first metacarpal Cleft vertebral arch Absent knee epiphyses Bowed humerus Bifid femur Abnormality of the tragus Abnormality of the pubic bone Abnormality of the distal phalanx of finger Abnormality of calcium-phosphate metabolism Abnormal cortical gyration Large iliac wings Aplasia/hypoplasia of the femur Small anterior fontanelle Abnormality of the intervertebral disk Central hypothyroidism Long clavicles Aplastic clavicle Tethered cord Broad distal phalanx of finger Abnormality of the upper urinary tract Thin eyebrow Colpocephaly Profound global developmental delay Agenesis of cerebellar vermis Pachygyria Fine hair Conductive hearing impairment Short ribs Vertebral clefting Short lower limbs Skin dimples Metaphyseal cupping Hyperphosphatemia Premature loss of teeth Bowing of the legs Abnormality of the voice Hypercalcemia Intracranial hemorrhage Hypercalciuria Increased susceptibility to fractures Disproportionate short-limb short stature Nephrocalcinosis Bone pain Decreased calvarial ossification Anorexia Recurrent respiratory infections Flexion contracture of finger Decreased corneal reflex Ectopic thyroid Lacrimation abnormality Abnormal cortical bone morphology Abnormality of vision Hypohidrosis Limitation of joint mobility Asthma Paresthesia Camptodactyly of finger Abnormality of the eye Widely patent fontanelles and sutures Rachitic rosary Cerebellar vermis hypoplasia Dolichocephaly Status epilepticus Hypsarrhythmia Sloping forehead Tetralogy of Fallot Specific learning disability Prominent nose Delayed myelination Bifid uvula Thick vermilion border Short palm Bulbous nose Polymicrogyria Dry skin Hypotrichosis Sparse hair Low alkaline phosphatase Muscular hypotonia of the trunk Rigidity Dyspnea Hyperkeratosis Hypogonadism Agenesis of corpus callosum Alopecia Cerebral atrophy Cognitive impairment Phosphoethanolaminuria Elevated plasma pyrophosphate Elevated urine pyrophosphate Skin dimple over apex of long bone angulation Unossified vertebral bodies Thin upper lip vermilion Proteinuria Abnormal eyelash morphology Iris coloboma Split hand Recurrent otitis media Cutaneous photosensitivity Intellectual disability, profound Hypoplasia of penis Ambiguous genitalia Eczema Narrow forehead Postaxial hand polydactyly Dandy-Walker malformation Wide intermamillary distance Renal agenesis Intestinal malrotation Hypopigmentation of the skin Postaxial polydactyly Aganglionic megacolon Finger syndactyly Wide mouth Intellectual disability, moderate Upslanted palpebral fissure Abnormality of cardiovascular system morphology Microphthalmia Diarrhea Edema Ventriculomegaly Epicanthus Dysplastic tricuspid valve Hypoplastic radial head Abnormality of the umbilicus Reduced renal corticomedullary differentiation Abnormality of the genital system Dental crowding Malrotation of colon Hammertoe Abnormal lung lobation Epiphyseal stippling Hypopigmentation of hair Aplasia/Hypoplasia of the radius Biparietal narrowing Atrioventricular canal defect Mesomelia Hyperkalemia Adrenal insufficiency Overlapping toe Abnormality of dental morphology Aplasia/Hypoplasia of the cerebellum Bifid scrotum Unilateral renal agenesis Clitoral hypertrophy Gingival overgrowth Hyponatremia Precocious puberty Poor suck Reduced number of teeth Optic nerve hypoplasia Renal hypoplasia/aplasia Scrotal hypoplasia Aplasia/Hypoplasia of the corpus callosum Abnormal dermatoglyphics Hypercholesterolemia Holoprosencephaly Hyperbilirubinemia Multicystic kidney dysplasia Short toe Otitis media with effusion Duplication of internal organs Hypertrophic cardiomyopathy Sepsis Deep philtrum Hypoplasia of the radius Relative macrocephaly Widely spaced teeth Torticollis Spontaneous abortion Increased body weight Aspiration Long eyelashes Recurrent urinary tract infections Hypertrichosis High myopia Otitis media Vesicoureteral reflux Triangular face Clubbing Delayed eruption of teeth Tapered finger Highly arched eyebrow High, narrow palate Downturned corners of mouth Hirsutism Thin vermilion border Cleft upper lip Vertigo Astigmatism Synophrys Pallor Respiratory tract infection Telecanthus Short metatarsal Tricuspid regurgitation Projectile vomiting Thick upper lip vermilion Left-to-right shunt Esophageal stenosis Curly eyelashes Absent hand Gastroparesis Supernumerary ribs Phocomelia Hand oligodactyly Perimembranous ventricular septal defect Short sternum Peters anomaly Panhypopituitarism Volvulus Recurrent hypoglycemia Optic nerve coloboma Short middle phalanx of finger Abnormality of the gastrointestinal tract Hypoplastic labia majora Esophagitis Aspiration pneumonia Hiatus hernia Poor appetite Ectrodactyly Oligodactyly Hypoplastic nipples Dislocated radial head Weak cry Limited elbow extension Opisthotonus Ectopic kidney Metaphyseal rarefaction


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Optic atrophy and Hip dislocation, related diseases and genetic alterations Hyperreflexia and Dysmetria, related diseases and genetic alterations Macrocephaly and Delayed myelination, related diseases and genetic alterations Macrocephaly and Tall stature, related diseases and genetic alterations Cleft palate and High myopia, related diseases and genetic alterations Seizures and Hypertonia, related diseases and genetic alterations