Macrocephaly, and Renal hypoplasia

Diseases related with Macrocephaly and Renal hypoplasia

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

Top matches:

Related symptoms:

  • Hypertelorism
  • Cleft palate
  • Cryptorchidism
  • Respiratory insufficiency
  • Microphthalmia


SOURCES: OMIM MENDELIAN

More info about SHORT-RIB THORACIC DYSPLASIA 13 WITH OR WITHOUT POLYDACTYLY; SRTD13

1p31p32 microdeletion syndrome is a rare chromosomal anomaly syndrome, resulting from the partial deletion of the short arm of chromosome 1, characterized by developmental delay, corpus callosum agenesis/hypoplasia and craniofacial dysmorphism, such as macrocephaly (caused by hydrocephalus or ventriculomegaly), low-set ears, anteverted nostrils and micrognathia. Urinary tract defects (e.g. vesicoureteral reflux, urinary incontinence) are also frequently associated. Other reported variable manifestations include hypotonia, tethered spinal cord, Chiari type I malformation and seizures.

1P31P32 MICRODELETION SYNDROME Is also known as monosomy 1p31p32|del(1)(p31p32)

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Failure to thrive


SOURCES: OMIM ORPHANET MENDELIAN

More info about 1P31P32 MICRODELETION SYNDROME

Short rib-polydactyly syndrome, Verma-Naumoff type is a short rib-polydactyly syndrome characterized by short limb dwarfism, short ribs with thoracic dysplasia, postaxial polydactyly and protuberant abdomen. Associated multiple malformations include cardiovascular defects, renal agenesis /hypoplasia, abnormal cloacal development (ambiguous genitalia, anal atresia) and cerebellar hypoplasia. Short rib-polydactyly syndrome, Verma-Naumoff type follows an autosomal recessive mode of transmission. The disease is usually fatal in the perinatal period.

SHORT RIB-POLYDACTYLY SYNDROME, VERMA-NAUMOFF TYPE Is also known as short rib-polydactyly syndrome type 3

Related symptoms:

  • Micrognathia
  • Cataract
  • Cryptorchidism
  • Depressed nasal bridge
  • Epicanthus


SOURCES: ORPHANET MENDELIAN

More info about SHORT RIB-POLYDACTYLY SYNDROME, VERMA-NAUMOFF TYPE

Other less relevant matches:

Short rib-polydactyly syndrome (SRPS), Beemer-Langer type is an extremely rare type of SRPS developing prenatally or immediately after birth and characterized by short and narrow thorax with horizontally oriented ribs. Other bone features include small iliac bones, short tubular bones, bowing of long bones and rarely pre- and post-axial polydactyly. Brain defects are common and some cases of cleft lip, absent internal genitalia and renal, biliary and pancreatic cysts have been reported. The course is rapidly fatal.

SHORT RIB-POLYDACTYLY SYNDROME, BEEMER-LANGER TYPE Is also known as short rib syndrome, beemer type|srps iv|short rib-polydactyly syndrome type 4|short rib-polydactyly syndrome, type iv|beemer-langer syndrome|srps4

Related symptoms:

  • Hypertelorism
  • Abnormal facial shape
  • Cleft palate
  • Low-set ears
  • Epicanthus


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about SHORT RIB-POLYDACTYLY SYNDROME, BEEMER-LANGER TYPE

Pallister-Hall syndrome is a pleiotropic autosomal dominant disorder comprising hypothalamic hamartoma, pituitary dysfunction, central polydactyly, and visceral malformations (Biesecker et al., 1996).

PALLISTER-HALL SYNDROME; PHS Is also known as hypothalamic hamartoblastoma, hypopituitarism, imperforate anus, and postaxial polydactyly

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Growth delay


SOURCES: OMIM MESH MENDELIAN

More info about PALLISTER-HALL SYNDROME; PHS

Coffin-Siris syndrome is a multiple malformation syndrome characterized by mental retardation associated with coarse facial features, hypertrichosis, sparse scalp hair, and hypoplastic or absent fifth fingernails or toenails. Other more variable features may include poor overall growth, craniofacial abnormalities, spinal anomalies, and congenital heart defects (review by Vergano and Deardorff, 2014). Mutations in the ARID1B gene are the most common cause of Coffin-Siris syndrome (Wieczorek et al., 2013). Genetic Heterogeneity of Coffin-Siris SyndromeForms of Coffin-Siris syndrome have been shown to be caused by mutations in genes encoding subunits of the SWI/SNF complex, also known as the BAF complex, which functions as a chromatin remodeling factor. These include CSS2 (OMIM ), caused by mutation in the ARID1A gene (OMIM ); CSS3 (OMIM ), caused by mutation in the SMARCB1 gene (OMIM ); CSS4 (OMIM ), caused by mutation in the SMARCA4 gene (OMIM ); CSS5 (OMIM ), caused by mutation in the SMARCE1 gene (OMIM ); CSS6 (OMIM ), caused by mutation in the ARID2 gene (OMIM ); and CSS7 (OMIM ), caused by mutation in the DPF2 gene (OMIM ).A similar phenotype, Nicolaides-Baraitser syndrome (NCBRS ), is also caused by mutation in a subunit of this complex, i.e., SMARCA2 (OMIM ).

COFFIN-SIRIS SYNDROME 1; CSS1 Is also known as fifth digit syndrome|coffin-siris syndrome|mrd12|css|mental retardation, autosomal dominant 12

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about COFFIN-SIRIS SYNDROME 1; CSS1

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

Medium match WILLIAMS SYNDROME

Williams syndrome is a rare genetic multisystemic neurodevelopmental disorder characterized by a distinct facial appearance, cardiac anomalies (most frequently supravalvular aortic stenosis), cognitive and developmental abnormalities, and connective tissue abnormalities (such as joint laxity)

WILLIAMS SYNDROME Is also known as deletion 7q11.23|williams syndrome|williams-beuren syndrome|chromosome 7q11.23 deletion syndrome, 1.5- to 1.8-mb|wms|monosomy 7q11.23|ws

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about WILLIAMS SYNDROME

Klippel-Feil syndrome (KFS) is a congenital anomaly characterized by a defect in the formation or segmentation of the cervical vertebrae, resulting in a fused appearance. The clinical triad consists of short neck, low posterior hairline, and limited neck movement, although less than 50% of patients demonstrate all 3 clinical features (Tracy et al., 2004). Genetic Heterogeneity of Klippel-Feil SyndromeAdditional forms of KFS include autosomal recessive KFS2 (OMIM ), caused by mutation in the MEOX1 gene (OMIM ) on chromosome 17q21, autosomal dominant KFS3 (OMIM ), caused by mutation in the GDF3 gene (OMIM ) on chromosome 12p13, and autosomal recessive KFS4 (OMIM ), caused by mutation in the MYO18B gene (OMIM ) on chromosome 22q12.See also MURCS association (OMIM ), in which Klippel-Feil anomaly is associated with urogenital anomalies.

KLIPPEL-FEIL SYNDROME 1, AUTOSOMAL DOMINANT; KFS1 Is also known as cervical vertebral fusion, autosomal dominant|kfs

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about KLIPPEL-FEIL SYNDROME 1, AUTOSOMAL DOMINANT; KFS1

Autosomal dominant cutis laxa-3 is characterized by thin skin with visible veins and wrinkles, cataract or corneal clouding, clenched fingers, pre- and postnatal growth retardation, and moderate intellectual disability. In addition, patients exhibit a combination of muscular hypotonia with brisk muscle reflexes (Fischer-Zirnsak et al., 2015).For a general phenotypic description and discussion of genetic heterogeneity of autosomal dominant cutis laxa, see ARCL1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about CUTIS LAXA, AUTOSOMAL DOMINANT 3; ADCL3

Top 5 symptoms//phenotypes associated to Macrocephaly and Renal hypoplasia

Symptoms // Phenotype % cases
Cryptorchidism Common - Between 50% and 80% cases
Cleft palate Common - Between 50% and 80% cases
Inguinal hernia Common - Between 50% and 80% cases
Ventricular septal defect Common - Between 50% and 80% cases
Intrauterine growth retardation Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Macrocephaly and Renal hypoplasia. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases

Intellectual disability

Uncommon Symptoms - Between 30% and 50% cases

Global developmental delay

Common Symptoms - More than 50% cases

Abnormal facial shape

Uncommon Symptoms - Between 30% and 50% cases

Depressed nasal bridge Hernia Cleft upper lip Low-set ears Scoliosis Growth delay Feeding difficulties Renal cyst Generalized hypotonia Seizures Patent ductus arteriosus Short stature Single transverse palmar crease Abnormality of the pinna Micrognathia Hydronephrosis Hydrocephalus Frontal bossing Cataract Failure to thrive Muscular hypotonia Ptosis Hypertelorism Behavioral abnormality Dandy-Walker malformation Autistic behavior Polydactyly Strabismus Microcephaly Pulmonary hypoplasia Hearing impairment Abnormal heart morphology Syndactyly Abnormality of cardiovascular system morphology Unilateral renal agenesis Increased body weight Craniosynostosis Broad forehead Hypospadias Vesicoureteral reflux Cutis marmorata Postnatal growth retardation Delayed skeletal maturation Atrial septal defect Myopia Epicanthus Long philtrum Delayed speech and language development Otitis media Brachydactyly Respiratory distress Short neck Talipes equinovarus Small nail Choanal atresia Wide nasal bridge Sensorineural hearing impairment Thin upper lip vermilion Precocious puberty Ectopic kidney Hip dislocation Neoplasm Respiratory tract infection Intestinal malrotation Autism Posteriorly rotated ears Prominent forehead Coarse facial features Cerebellar hypoplasia Spontaneous abortion Short ribs Omphalocele Ambiguous genitalia Limb undergrowth Abnormality of the skeletal system Relative macrocephaly Downslanted palpebral fissures Hypertension High palate Cleft lip Narrow chest Anal atresia Bifid tongue Anteverted nares Hypertonia Natal tooth Respiratory insufficiency Agenesis of corpus callosum Short nose

Rare Symptoms - Less than 30% cases

Preaxial polydactyly Short sternum Rectal prolapse Panhypopituitarism Hypoplastic nipples Cutis laxa Hypertrophic cardiomyopathy Oligodactyly Proteinuria Conductive hearing impairment Microglossia Cerebellar vermis hypoplasia Gastroesophageal reflux Microretrognathia Hemivertebrae Cystic renal dysplasia Renal agenesis Growth hormone deficiency Toe syndactyly Microtia Renal dysplasia Abnormality of the kidney Recurrent hypoglycemia Micropenis Glaucoma Clinodactyly of the 5th finger Abnormality of the dentition Adducted thumb Nystagmus Dislocated radial head Thick eyebrow Midface retrusion Wide mouth Microphthalmia Synophrys Astigmatism Low anterior hairline Hirsutism Low-set, posteriorly rotated ears Thick vermilion border Delayed eruption of teeth Broad nasal tip Tetralogy of Fallot Long eyelashes Hypotelorism Congenital diaphragmatic hernia Feeding difficulties in infancy Joint laxity Abnormality of digit Macrotia Sacral dimple Spina bifida occulta Postaxial polydactyly Pulmonic stenosis Pain Visual impairment Vomiting Aggressive behavior Kyphosis Clinodactyly Respiratory failure Recurrent respiratory infections Abdominal pain Umbilical hernia Hypoglycemia Small for gestational age Thick lower lip vermilion Holoprosencephaly Micromelia Protruding ear Thoracic dysplasia Webbed neck Arnold-Chiari type I malformation Horizontal ribs Short thorax Microdontia Corneal opacity Ventriculomegaly Low posterior hairline Bifid epiglottis Hypertrichosis Recurrent urinary tract infections Cognitive impairment Short palm Wide nose Short foot Postaxial hand polydactyly Hypoplasia of penis Widely spaced teeth Incoordination Facial cleft Disproportionate short-limb short stature Obsessive-compulsive behavior Lobulated tongue Sleep disturbance Abnormality of the urinary system Hypoplasia of the corpus callosum Hyperactivity Narrow mouth Thin vermilion border Facial asymmetry High forehead Osteopenia Dilatation Triangular face Oral cleft Attention deficit hyperactivity disorder Hypercalcemia Failure to thrive in infancy Carious teeth Hyperlordosis Redundant skin Cholelithiasis Hypercalciuria Kyphoscoliosis Malabsorption Dysphonia Polycystic ovaries Abnormality of pelvic girdle bone morphology Cerebral cortical atrophy Genu valgum Hypothyroidism Nephritis Chronic otitis media Scarring Developmental regression Intellectual disability, moderate Portal hypertension Abnormality of the voice Paralysis Anxiety Joint stiffness Blepharophimosis Abnormal cardiac septum morphology Irritability Radioulnar synostosis Stroke Pes planus Arthralgia Neurological speech impairment Hyperreflexia Nausea and vomiting Osteoporosis Reduced bone mineral density Abnormal dermatoglyphics Arnold-Chiari malformation Hypsarrhythmia Depressivity Obesity Congestive heart failure Intellectual disability, mild Open mouth Recurrent otitis media Hypodontia Diabetes mellitus Myocardial infarction Ventricular hypertrophy Type II diabetes mellitus Absent speech Cardiomegaly Mitral regurgitation Coarctation of aorta Macroglossia Malar flattening Renal insufficiency Abnormality of extrapyramidal motor function Full cheeks Mitral valve prolapse Narrow forehead Abnormality of the cardiovascular system Sudden cardiac death Chest pain Dehydration Esotropia Myopathy Pectus excavatum Schizophrenia Smooth philtrum Infantile muscular hypotonia Ischemic stroke Bicuspid aortic valve Progressive hearing impairment Dental malocclusion Abnormality of the fingernails Abnormality of dental enamel Joint hyperflexibility Nephrocalcinosis Hypogonadotrophic hypogonadism Pointed chin Dysarthria Increased bone mineral density Narrow face Elevated serum creatine phosphokinase Hoarse voice Dysmetria Aortic valve stenosis Gingival overgrowth Amblyopia Tremor Nephrolithiasis Everted lower lip vermilion Involuntary movements Postural instability Abnormal form of the vertebral bodies Gait disturbance Constipation Hemiparesis Peripheral pulmonary artery stenosis Abnormality of dental morphology Unilateral renal hypoplasia Functional abnormality of male internal genitalia Stellate iris Dyssynergia Early onset of sexual maturation Overfriendliness Nystagmus-induced head nodding Thyroid hemiagenesis Bilateral vocal cord paralysis Elfin facies Medial flaring of the eyebrow Abnormality of the diencephalon Abnormal carotid artery morphology Paroxysmal bursts of laughter Myxomatous mitral valve degeneration Calcification of the aorta Vocal cord dysfunction Impaired visuospatial constructive cognition Supravalvular aortic stenosis Flat cornea Abnormal social behavior Renovascular hypertension Abnormality of the gastric mucosa Infantile hypercalcemia Food intolerance Pelvic kidney Hyperacusis Retinal arteriolar tortuosity Coronary artery stenosis Renal artery stenosis Abnormality of the bladder Descending aorta hypoplasia Atrophy/Degeneration involving the corticospinal tracts Nocturia Mild conductive hearing impairment Dermal translucency Calcaneovalgus deformity Premature skin wrinkling Spinal canal stenosis Reduced subcutaneous adipose tissue Delayed cranial suture closure Brisk reflexes Aortic regurgitation Wormian bones Thin skin Oligohydramnios Congenital cataract Cervicomedullary schisis Limited neck range of motion Decreased cervical spine mobility Abnormality of the ribs Fused cervical vertebrae Abnormality of the genitourinary system Rocker bottom foot Mixed hearing impairment Vertebral fusion Sprengel anomaly External ear malformation Stiff neck Abnormality of limb bone morphology Bimanual synkinesia Posterior fossa cyst Congenital muscular torticollis Abnormal vertebral segmentation and fusion Cervical C2/C3 vertebral fusion Moderate hearing impairment Synostosis of joints Obsessive-compulsive trait Hypoplastic toenails Nevus flammeus Large earlobe Tubulointerstitial nephritis Right ventricular hypertrophy Chronic constipation Hypoplasia of the zygomatic bone Blue irides Vocal cord paralysis Down-sloping shoulders Multiple renal cysts Patellar dislocation Abnormality of the vasculature Pulmonary artery stenosis Poor coordination Soft skin Posterior embryotoxon Abnormality of the cerebral vasculature Premature graying of hair Tracheoesophageal fistula Glucose intolerance Polyuria Loss of consciousness Open bite Hallux valgus Vertebral segmentation defect Abnormality of lipid metabolism Celiac disease High hypermetropia Prematurely aged appearance Restlessness Insomnia Megalocornea Abnormality of the neck Enuresis Aortic arch aneurysm Phonophobia Overriding aorta Tubulointerstitial abnormality Abnormality of the ankles Vascular tortuosity Colonic diverticula Renal duplication Aplasia/Hypoplasia of the iris Abnormal endocardium morphology Thyroid hypoplasia Retinal vascular tortuosity Increased nuchal translucency Abnormal glucose tolerance Urethral stenosis Parathyroid hyperplasia Abnormality of nervous system morphology Villous atrophy Spasticity Dyslexia Cerebral ischemia Abnormality of refraction Gait imbalance Periorbital fullness Decreased plasma carnitine Subvalvular aortic stenosis Dysgraphia Abnormal renal morphology Lacrimation abnormality Bladder diverticulum Peptic ulcer Periorbital edema Arterial stenosis Flexion contracture Severe expressive language delay Ataxia Pancreatic cysts Nail dysplasia Bifid uvula Dyspnea Absent internal genitalia Intrahepatic bile duct cysts Bowing of the arm Pancreatic dysplasia Fetal ascites Periportal fibrosis Hamartoma of tongue Accessory spleen Median cleft lip and palate Atelectasis Abnormality of the genital system Preaxial foot polydactyly Hypoplastic scapulae Single umbilical artery Broad foot Median cleft lip Protuberant abdomen Anencephaly Broad palm Short finger Milia Bowing of the legs Metaphyseal irregularity Anophthalmia Decreased testicular size Cutaneous syndactyly Short long bone Rib fusion Mesoaxial hand polydactyly Thyroid dysgenesis Mesoaxial polydactyly Hypothalamic hamartoma Laryngeal cleft Radial head subluxation Hydrometrocolpos Hypoplasia of the epiglottis Mandibular aplasia Bilateral choanal atresia Microphallus Vaginal atresia Decreased circulating cortisol level Scrotal hypoplasia Upper airway obstruction Short 4th metacarpal Adrenal hypoplasia Postaxial foot polydactyly Abnormal lung lobation Hypopituitarism Hamartoma External genital hypoplasia Mesomelia Hydroureter Adrenal insufficiency Bilateral cryptorchidism Atresia of the external auditory canal Patent foramen ovale Bilateral single transverse palmar creases Distal urethral duplication Unicoronal synostosis Sparse eyebrow Aplasia/Hypoplasia of the corpus callosum Short chin Pigmentary retinopathy Overgrowth Hip dysplasia Urinary incontinence Polymicrogyria Retinopathy Jaundice Upslanted palpebral fissure Motor delay Hypoplastic facial bones Absent septum pellucidum Squared iliac bones Cleft soft palate Hypoplastic pelvis Flat acetabular roof Bell-shaped thorax Occipital encephalocele Molar tooth sign on MRI Thoracic hypoplasia Rhizomelia Bowing of the long bones Encephalocele Prominent nose Skeletal dysplasia Overfolded helix Syringomyelia Short toe Lethal skeletal dysplasia Wide intermamillary distance Ascites Flat face Talipes Polyhydramnios Splenomegaly Edema Hepatomegaly Urethrovaginal fistula Abnormal pelvis bone ossification Absent or minimally ossified vertebral bodies Uterus didelphys Congenital hepatic fibrosis Narrow nose Ectopic anus Esophageal atresia Preaxial hand polydactyly Hydrops fetalis Abnormality of the metaphysis Abdominal distention Partial absence of the septum pellucidum Craniofacial asymmetry Intraventricular hemorrhage Ureterocele Metopic synostosis Broad face Arachnoid cyst Y-shaped metacarpals Primitive neuroectodermal tumor Dysplastic tricuspid valve Elbow flexion contracture Opisthotonus 2-3 toe syndactyly Short middle phalanx of finger Tricuspid regurgitation Clubbing Proximal placement of thumb Self-injurious behavior Pyloric stenosis Short metatarsal Deep philtrum Hypoplasia of the radius Torticollis Aspiration Weak cry Blue sclerae High myopia Sepsis Microcornea Tapered finger Highly arched eyebrow Small hand High, narrow palate Downturned corners of mouth Vertigo Prominent nasal bridge Pallor Camptodactyly Limited elbow extension Ectrodactyly Retrognathia Absent hand 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 Poor appetite Supernumerary ribs Phocomelia Hand oligodactyly Perimembranous ventricular septal defect Peters anomaly Volvulus Thick upper lip vermilion Optic nerve coloboma Abnormality of the gastrointestinal tract Hypoplastic labia majora Esophagitis Aspiration pneumonia Hiatus hernia Telecanthus Mandibular prognathia Preductal coarctation of the aorta Tall stature Tics Enlarged cisterna magna Short 5th finger Partial agenesis of the corpus callosum Anonychia Elevated alkaline phosphatase Hemangioma Accelerated skeletal maturation Coxa valga Generalized hirsutism Horseshoe kidney Preauricular skin tag Sparse scalp hair Aplasia of the uterus Decreased fetal movement Eczema Short distal phalanx of finger Bulbous nose Confusion Hypotrichosis Severe global developmental delay Short philtrum Recurrent infections Diverticulosis of trachea Mesoaxial foot polydactyly Midline facial capillary hemangioma Distal shortening of limbs Neoplasm of the liver Patellar hypoplasia Proptosis Lumbosacral hirsutism Brachycephaly Hyperhidrosis Severe short stature Pneumonia Thrombocytopenia Headache Intellectual disability, severe Cardiomyopathy Optic atrophy Fever Anemia Short distal phalanx of the 5th toe Hypoplastic fifth fingernail Aplasia/Hypoplasia of the patella Short distal phalanx of the 5th finger Prominent interphalangeal joints Premature thelarche Facial hypertrichosis Intussusception Duodenal ulcer Ectopic posterior pituitary Hepatoblastoma Gastric ulcer Generalized hypertrichosis Hypotrichosis of the scalp Anterior pituitary hypoplasia Abnormality of the head Small foramen magnum


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