Intrauterine growth retardation, and Split hand

Diseases related with Intrauterine growth retardation and Split hand

In the following list you will find some of the most common rare diseases related to Intrauterine growth retardation and Split hand that can help you solving undiagnosed cases.

Top matches:

Hartsfield syndrome is a rare, genetic, developmental defect during embryogenesis malformation syndrome characterized by the association of variable degrees of holoprosencephaly and uni- or bilateral ectrodactyly of the hands and/or feet. Additional variable features, including facial dysmorphism (e.g. hypertelorism, short bulbous nose, long philtrum, dysplastic/low-set ears, cleft lip and palate, tented upper lip), other brain malformations (such as corpus callosum agenesis, absent septum pellucidum, absent olfactory bulbs/tracts, vermian hypoplasia), pituitary gland-related endocrine disorders (e.g. central diabetes insipidus, hypogonadotropic hypogonadism) and hypothalamic dysfunction, may be associated.

HARTSFIELD SYNDROME Is also known as holoprosencephaly-ectrodactyly-cleft lip/palate syndrome|holoprosencephaly, ectrodactyly, and bilateral cleft lip/palate

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about HARTSFIELD SYNDROME

Congenital Cataracts Facial Dysmorphism Neuropathy (CCFDN) syndrome is a complex developmental disorder of autosomal recessive inheritance.

CONGENITAL CATARACTS-FACIAL DYSMORPHISM-NEUROPATHY SYNDROME Is also known as ccfdn|cataract, congenital, with facial dysmorphism and neuropathy

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Scoliosis


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about CONGENITAL CATARACTS-FACIAL DYSMORPHISM-NEUROPATHY SYNDROME

Schinzel phocomelia syndrome, also called limb/pelvis hypoplasia/aplasia syndrome, is characterized by skeletal malformations affecting the ulnae, pelvic bones, fibulae and femora. As the phenotype is similar to that described in the malformation syndrome known as Al-Awadi/Raas-Rothschild syndrome, they are thought to be the same disorder.

PHOCOMELIA, SCHINZEL TYPE Is also known as al-awadi/raas-rothschild syndrome|aarrs|lphas|congenital absence of ulna and fibula|aplasia/hypoplasia of limbs and pelvis|al awadi-raas-rothschild syndrome|severe limb deficit|limb/pelvis-hypoplasia/aplasia syndrome|schinzel phocomelia syndrome

Related symptoms:

  • Micrognathia
  • Abnormal facial shape
  • Cleft palate
  • Cryptorchidism
  • Low-set ears


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about PHOCOMELIA, SCHINZEL TYPE

Other less relevant matches:

Oral-facial-digital syndrome, type 4 is characterized by lingual hamartoma, postaxial polysyndactyly of hands and feet, and mesomelic shortening of the legs with supinate equinovarus feet.

OROFACIODIGITAL SYNDROME TYPE 4 Is also known as oral-facial-digital syndrome, type iv|ofd syndrome with tibial defects|ofd syndrome, baraitser-burn type|mohr-majewski syndrome|ofds iv|oral-facial-digital syndrome type 4|ofd4|baraitser-burn syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Microcephaly


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about OROFACIODIGITAL SYNDROME TYPE 4

Adams-Oliver Syndrome (AOS) is a rare disorder characterized by the combination of congenital limb abnormalities and scalp defects, often accompanied by skull ossification defects.

ADAMS-OLIVER SYNDROME Is also known as aplasia cutis congenita with terminal transverse limb defects|congenital scalp defects with distal limb reduction anomalies|congenital scalp defects with distal limb anomalies|aos|absence defect of limbs, scalp, and skull|limb, scalp and skull defects

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about ADAMS-OLIVER SYNDROME

Wolf-Hirschhorn syndrome (WHS) is a developmental disorder characterized by typical craniofacial features, prenatal and postnatal growth impairment, intellectual disability, severe delayed psychomotor development, seizures, and hypotonia.

WOLF-HIRSCHHORN SYNDROME Is also known as distal deletion 4p|distal monosomy 4p|telomeric deletion 4p|4p- syndrome

Related symptoms:

  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Microcephaly
  • Scoliosis


SOURCES: ORPHANET MENDELIAN

More info about WOLF-HIRSCHHORN SYNDROME

Goltz syndrome or focal dermal hypoplasia is characterized by a polymorphic cutaneous disorder and highly variable anomalies affecting the eyes, teeth, skeleton and the central nervous, urinary, gastrointestinal and cardiovascular systems.

FOCAL DERMAL HYPOPLASIA Is also known as dhof|goltz syndrome|goltz-gorlin syndrome|fodh

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Microcephaly
  • Scoliosis


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about FOCAL DERMAL HYPOPLASIA

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

Ichthyosis follicularis - alopecia - photophobia (IFAP) is a rare genetic disorder characterized by the triad of ichthyosis follicularis, alopecia, and photophobia from birth.

ICHTHYOSIS FOLLICULARIS-ALOPECIA-PHOTOPHOBIA SYNDROME Is also known as ichthyosis follicularis-atrichia-photophobia syndrome|ifap syndrome|ichthyosis follicularis, atrichia, and photophobia with or without brain anomalies, retardation, ectodermal dysplasia, skeletal malformations, hirschsprung disease, ear/eye anomalies, cle

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about ICHTHYOSIS FOLLICULARIS-ALOPECIA-PHOTOPHOBIA SYNDROME

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

Top 5 symptoms//phenotypes associated to Intrauterine growth retardation and Split hand

Symptoms // Phenotype % cases
Cleft palate Very Common - Between 80% and 100% cases
Intellectual disability Common - Between 50% and 80% cases
Microcephaly Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Growth delay Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Intrauterine growth retardation and Split hand. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases

Cryptorchidism

Uncommon Symptoms - Between 30% and 50% cases

Talipes equinovarus

Common Symptoms - More than 50% cases

Micrognathia

Uncommon Symptoms - Between 30% and 50% cases

Hearing impairment

Common Symptoms - More than 50% cases

Strabismus

Uncommon Symptoms - Between 30% and 50% cases

Nystagmus

Common Symptoms - More than 50% cases

Scoliosis

Uncommon Symptoms - Between 30% and 50% cases

Short stature

Common Symptoms - More than 50% cases

Failure to thrive

Uncommon Symptoms - Between 30% and 50% cases

Microphthalmia

Common Symptoms - More than 50% cases

Low-set ears

Uncommon Symptoms - Between 30% and 50% cases

Hypospadias Abnormal facial shape Abnormality of the skeletal system Ptosis Ectrodactyly Seizures Toe syndactyly Oligodactyly Hypertelorism Syndactyly Wide nasal bridge Abnormality of the kidney Epicanthus Agenesis of corpus callosum Congenital diaphragmatic hernia Hernia Polydactyly Abnormality of cardiovascular system morphology Cleft upper lip Nail dysplasia Talipes Hip dislocation Renal cyst Ventriculomegaly Kyphosis Intellectual disability, severe Muscular hypotonia Camptodactyly of finger Hydrocephalus Atrial septal defect High palate Optic atrophy Feeding difficulties Abnormal heart morphology Ventricular septal defect Micromelia Proptosis Encephalocele Choanal atresia Severe short stature Abnormality of digit Postaxial hand polydactyly Brachydactyly Pulmonary hypoplasia Finger syndactyly Inguinal hernia Interphalangeal joint contracture of finger Hyperhidrosis Patent ductus arteriosus Iris coloboma Abnormality of the urinary system Unilateral renal agenesis Alopecia Cerebellar hypoplasia Retrognathia Abnormal cardiac septum morphology Ectodermal dysplasia Hand oligodactyly Delayed skeletal maturation Cleft lip Cutis marmorata Posteriorly rotated ears Microtia Micropenis Skeletal dysplasia Telecanthus Low-set, posteriorly rotated ears Hydronephrosis Short nose Short neck Clinodactyly Flexion contracture Ambiguous genitalia Recurrent respiratory infections Hypoplastic nipples Gastroesophageal reflux Camptodactyly Renal hypoplasia/aplasia Multicystic kidney dysplasia Oligohydramnios Abnormality of the dentition Cognitive impairment Cataract High, narrow palate Depressed nasal bridge Generalized hypotonia Abnormality of dental enamel Cerebral cortical atrophy Renal hypoplasia Hypoglycemia Hypertension Hypertonia Hypoplasia of the corpus callosum Postaxial polydactyly Fever Calvarial skull defect Downslanted palpebral fissures

Rare Symptoms - Less than 30% cases

Short ribs Porencephalic cyst Submucous cleft hard palate Hand polydactyly Subcortical cerebral atrophy Short finger Abnormality of the metacarpal bones Foot polydactyly Renal dysplasia Cerebral cortical hemiatrophy Telangiectasia Coarctation of aorta Short philtrum Premature birth Pulmonic stenosis Prominent nasal bridge Limb undergrowth Sparse hair Specific learning disability Conductive hearing impairment Thrombocytopenia Dilatation Renal agenesis Mesomelia Preaxial hand polydactyly Low posterior hairline Supernumerary nipple Autism Short metatarsal Abnormality of dental morphology Astigmatism Mixed hearing impairment Hiatus hernia Abnormality of the larynx Sensorineural hearing impairment Anteverted nares Vomiting Behavioral abnormality Long philtrum Recurrent infections Hyperactivity Glaucoma Aggressive behavior Increased body weight Autistic behavior Sleep disturbance Webbed neck Eczema Abnormality of the ribs Aganglionic megacolon Pyloric stenosis Self-injurious behavior Proximal placement of thumb Bifid scrotum 2-3 toe syndactyly Abnormal eyelash morphology Myopia Respiratory tract infection Reduced number of teeth Abnormality of the nail Aplasia/Hypoplasia of the skin Abnormal vertebral morphology Aplasia cutis congenita Hypoplastic fingernail Aplasia cutis congenita of scalp Absent hand Absent fingernail Frontal bossing Abnormality of the foot Downturned corners of mouth Highly arched eyebrow Hypodontia Decreased fetal movement Abnormal form of the vertebral bodies Abnormality of the genital system Short thumb Aplasia/Hypoplasia of the cerebellum Hypoplasia of dental enamel Abnormality of the vertebral column Abnormality of the gallbladder Neoplasm Umbilical hernia Abnormality of the pinna Erythema Scarring Corneal opacity Papule Nail dystrophy Hypotrichosis Delayed eruption of teeth Intestinal malrotation Omphalocele Aplasia/Hypoplasia of the lungs Sclerocornea Oral cleft Intellectual disability, profound Aplasia/Hypoplasia of the radius Absent septum pellucidum Hypoplasia of the radius Foot oligodactyly Ataxia Peripheral demyelination Aplasia/Hypoplasia of the corpus callosum Phocomelia Hypoplasia of penis Holoprosencephaly Decreased testicular size Small nail Macrotia Microcornea Bowing of the long bones Protruding ear Cerebral atrophy Small hand Hypoplastic pelvis Wide nose Osteoporosis Elbow flexion contracture Hemivertebrae Scrotal hypoplasia Megalocornea Anal atresia Craniosynostosis Hypogonadism Long eyelashes Acrania Abnormal lung lobation Talipes calcaneovalgus Periventricular gray matter heterotopia Self-mutilation Upper limb undergrowth Hypoplasia of the frontal lobes Septate vagina Sleep-wake cycle disturbance Alveolar ridge overgrowth Severe intrauterine growth retardation Elevated 7-dehydrocholesterol Atrioventricular canal defect Hypopigmentation of hair Postaxial foot polydactyly Ulnar deviation of finger Severe photosensitivity Increased number of teeth Hyperkalemia Opsoclonus Facial capillary hemangioma Biparietal narrowing Abnormality of limbs Epiphyseal stippling Abnormal localization of kidney Aplasia/Hypoplasia affecting the eye Overlapping fingers Hypocholesterolemia Decreased circulating aldosterone level Abnormal renal morphology Gastrointestinal dysmotility Advanced eruption of teeth Ureteropelvic junction obstruction Cholestatic liver disease Bicornuate uterus Breech presentation Bifid tongue Sex reversal Hip subluxation Ectopic calcification Increased nuchal translucency Excessive daytime somnolence Tracheal stenosis Gastroschisis Broad alveolar ridges Mesomelic short stature Severe failure to thrive Median cleft palate Microglossia Male pseudohermaphroditism Increased serum testosterone level Colonic stenosis Adrenal insufficiency Cholesteatoma Upslanted palpebral fissure Constipation Gonadotropin deficiency Central diabetes insipidus Diarrhea Long hallux Edema Semilobar holoprosencephaly Spasticity Hypernatremia Midclavicular aplasia Midclavicular hypoplasia Giant cell tumor of bone Apocrine hidrocystoma Linear hyperpigmentation Polyhydramnios Ectopia cordis Bifid ureter Abnormal adipose tissue morphology Abnormality of the pulmonary vasculature Nonproductive cough Osteopathia striata Cleft ala nasi Abnormality of the mediastinum Abnormal palmar dermatoglyphics Caudal appendage Ridged fingernail Absence of the sacrum Patchy alopecia Upper limb asymmetry Non-midline cleft lip Diabetes insipidus Overlapping toe Gingival overgrowth Metatarsus adductus Severe global developmental delay Hammertoe Clitoral hypertrophy Respiratory distress Hyponatremia Precocious puberty Hypotelorism Poor suck Optic nerve hypoplasia Abnormal dermatoglyphics Hypercholesterolemia Hyperbilirubinemia Short toe Rhizomelia Intellectual disability, moderate Amblyopia Dental crowding Recurrent otitis media Cutaneous photosensitivity Cutaneous syndactyly Narrow forehead Dandy-Walker malformation Wide intermamillary distance Hypopigmentation of the skin Poor head control Attention deficit hyperactivity disorder Wide mouth Hypoplasia of the brainstem Feeding difficulties in infancy Neonatal hypotonia Platyspondyly Immunodeficiency Otitis media Clubbing Deep philtrum Incoordination Relative macrocephaly Widely spaced teeth Torticollis Spontaneous abortion Low anterior hairline Aspiration Recurrent urinary tract infections Hypertrichosis Blue sclerae High myopia Microdontia Vesicoureteral reflux Short middle phalanx of finger Sepsis Triangular face Tapered finger Single transverse palmar crease Hirsutism Thick eyebrow Thin vermilion border Vertigo Synophrys Small for gestational age Pallor Postnatal growth retardation Hypertrophic cardiomyopathy Proteinuria Tricuspid regurgitation Ectopic kidney Mandibular prognathia Perimembranous ventricular septal defect Hypoplastic radial head Abnormality of the umbilicus Reduced renal corticomedullary differentiation Otitis media with effusion Malrotation of colon Duplication of internal organs Projectile vomiting Left-to-right shunt Hypertropia Esophageal stenosis Hypoplastic male external genitalia Curly eyelashes Gastroparesis Supernumerary ribs Short sternum Opisthotonus Peters anomaly Panhypopituitarism Volvulus Recurrent hypoglycemia Thick upper lip vermilion Optic nerve coloboma Abnormality of the gastrointestinal tract Hypoplastic labia majora Esophagitis Aspiration pneumonia Poor appetite Dislocated radial head Weak cry Limited elbow extension Thin upper lip vermilion Narrow mouth Dementia Opacification of the corneal stroma Parakeratosis Uveitis Atonic seizures Congenital ichthyosiform erythroderma Hydroureter Absent eyebrow Keratitis Intestinal obstruction Erythroderma Psoriasiform dermatitis Scaling skin Urticaria Abnormality of the hand Plagiocephaly Conjunctivitis Blepharitis Recurrent bacterial infections Abnormality of the hair Hypohidrosis Epidermal acanthosis Brain atrophy Palmoplantar keratoderma Ichthyosis Dry skin Respiratory insufficiency Abnormality of the middle ear Developmental regression Mental deterioration Photophobia Hyperkeratosis Alopecia of scalp Absent eyelashes Brachycephaly Paronychia Prominent forehead Pneumonia Clinodactyly of the 5th finger Headache Cardiomyopathy Macrocephaly Delayed speech and language development Anemia Unilateral chest hypoplasia Ichthyosis follicularis Abnormal pelvis bone morphology Thin fingernail Scleritis Hypoplasia of the bladder Episcleritis Abnormal eyelid morphology Thin eyebrow Corneal erosion Follicular hyperkeratosis Heat intolerance Recurrent corneal erosions Olivopontocerebellar atrophy Alopecia totalis Oxycephaly Hyperconvex fingernails Alopecia universalis Cheilitis Abnormality of the upper urinary tract Corneal scarring Abnormal nasolacrimal system morphology Abnormality of temperature regulation Reticular hyperpigmentation Skin nodule Rough bone trabeculation Short distal phalanx of finger Portal hypertension Bicuspid aortic valve Leukopenia Meningitis Aortic valve stenosis Pachygyria Hemiparesis Pulmonary arterial hypertension Tetralogy of Fallot Esotropia Gastrointestinal hemorrhage Hydrops fetalis Ascites Polymicrogyria Long face Cirrhosis Leukemia Narrow palate EEG abnormality Osteopenia Patent foramen ovale Tracheoesophageal fistula Anonychia Femoral bowing Disproportionate short stature Meningocele Broad neck Radial bowing Barrel-shaped chest Short foot Hypoplastic left heart Broad ribs Acute rhabdomyolysis Motor polyneuropathy Abnormality of the cervical spine Recurrent myoglobinuria Malar prominence Aplasia cutis congenita on trunk or limbs Aplasia cutis congenita over posterior parietal area Imperforate hymen Periventricular cysts Cutis marmorata telangiectatica congenita Absent toe Abnormal pulmonary valve morphology Venous malformation Upper limb postural tremor Aplastic/hypoplastic toenail Cortical dysplasia Chylothorax Peripheral hypomyelination Periventricular leukomalacia Congenital hepatic fibrosis Esophageal varix Abnormality of the upper limb Pulmonary artery atresia Abnormality of the lower limb Arteriovenous malformation Double outlet right ventricle Pulmonary artery stenosis Central hypotonia Pectus carinatum Cutaneous finger syndactyly Single umbilical artery Abnormality of tibia morphology Retinopathy Carpal bone aplasia Genu varum Laryngomalacia Broad clavicles Abnormality of the outer ear Joint dislocation Aplasia/hypoplasia of the femur Hepatic fibrosis Decreased calvarial ossification Congenital pseudoarthrosis of the clavicle Depressed nasal ridge Hypoplastic sacrum Aplasia/Hypoplasia of the phalanges of the hand Occipital meningocele Aplasia/Hypoplasia of the phalanges of the toes Elbow ankylosis Bifid uvula Aplasia/Hypoplasia of metatarsal bones Abnormality of eye movement Rectal fistula Aplasia/Hypoplasia of the sacrum Aplasia/Hypoplasia involving the pelvis Pilonidal sinus Aplasia/Hypoplasia of the pubic bone Aplastic pubic bones Anteriorly displaced genitalia Aplasia/Hypoplasia involving the carpal bones Aplasia/Hypoplasia of the tarsal bones Humeroulnar synostosis Pectus excavatum Aplasia/Hypoplasia involving the metacarpal bones Hypoplastic toenails Aplasia of the uterus Abnormal oral frenulum morphology Absent crus of helix Monorchism Microtia, third degree Oral synechia Aplasia/Hypoplasia of the mandible Bilateral lung agenesis Rectal atresia Absent testis Fibular aplasia Perineal fistula Aplasia/Hypoplasia of the tibia Tongue nodules Hamartoma of tongue Lobulated tongue Abnormality of the gingiva Aplasia of the ulna Accessory oral frenulum Abnormal oral mucosa morphology Humeroradial synostosis Abnormality of the tongue Rectovaginal fistula Short tibia Median cleft lip Primary adrenal insufficiency Prominent sternum Occipital encephalocele Hamartoma Abnormal joint morphology Long ear Abnormality of the ear High forehead Dolichocephaly Absent toenail Motor delay Macule Lobar holoprosencephaly Hypermelanotic macule Open bite Mild short stature Anophthalmia Stridor Chorioretinal coloboma Ectropion Ectopia lentis Brittle hair Muscle weakness Dermal atrophy Recurrent skin infections Vertebral fusion Arnold-Chiari malformation Oligodontia Spina bifida occulta Peripheral neuropathy Tremor Horseshoe kidney Congenital hip dislocation Pointed chin Intellectual disability, mild Hoarse voice Spina bifida Short phalanx of finger Abnormality of epiphysis morphology Babinski sign Colitis Narrow nasal bridge Pes cavus Verrucae Clitoral hypoplasia Inspiratory stridor Papilloma Total anomalous pulmonary venous return Abnormality of hair texture Abnormal cornea morphology Ureteral duplication Bifid nose Lower limb phocomelia Anomalous pulmonary venous return Hypoplasia of teeth Cholangitis Labial hypoplasia Duplication of thumb phalanx Ulcerative colitis Telangiectasia of the skin Lower limb asymmetry Duodenal atresia Acute hepatic failure Diastasis recti Truncus arteriosus Myelomeningocele Stenosis of the external auditory canal Hypoplasia of the frontal bone Split foot Hypoplasia of the iris Aniridia Short clavicles Facial cleft Anteriorly placed anus Subcutaneous nodule Thin skin Abnormality of peripheral nerve conduction Abnormality of the thorax Aplasia/Hypoplasia of the nipples Abdominal situs inversus Rib fusion Short hallux High anterior hairline Hypergonadotropic hypogonadism Abnormality of the mouth Hypogonadotrophic hypogonadism Abnormality of the immune system Abnormal heart valve morphology Disproportionate tall stature CNS hypomyelination Chronic otitis media Postural tremor Abnormality of the philtrum Hemangioma Sacral dimple Decreased motor nerve conduction velocity Axonal degeneration Secondary amenorrhea Rhabdomyolysis Axonal loss Myoglobinuria Malignant hyperthermia Genu recurvatum Motor axonal neuropathy Decreased serum estradiol Arachnodactyly Abnormality of movement Tethered cord Abnormal lip morphology Overgrowth Coloboma Abnormality of the skin Dental malocclusion Short metacarpal Kyphoscoliosis Broad nasal tip Proximal muscle weakness Abnormality of skin pigmentation Facial asymmetry Myalgia Pruritus Abnormal pyramidal sign Congenital cataract Dysmetria Cough Paresthesia Primary amenorrhea Sensory neuropathy Polyneuropathy Joint laxity Chorea Reduced visual acuity Weight loss Abdominal pain Amenorrhea Obesity Blindness Dysphagia Intention tremor Hypoplastic pubic rami Rib segmentation abnormalities Dysplastic tricuspid valve


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