Hydrocephalus, and Short foot

Diseases related with Hydrocephalus and Short foot

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


Top matches:

High match X-LINKED DOMINANT CHONDRODYSPLASIA, CHASSAING-LACOMBE TYPE


X-linked dominant chondrodysplasia Chassaing-Lacombe type is a rare genetic bone disorder characterized by chondrodysplasia, intrauterine growth retardation (IUGR), hydrocephaly and facial dysmorphism in the affected males.

X-LINKED DOMINANT CHONDRODYSPLASIA, CHASSAING-LACOMBE TYPE Is also known as x-linked dominant chondrodysplasia-hydrocephaly-microphthalmia syndrome

Related symptoms:

  • Intellectual disability
  • Short stature
  • Growth delay
  • Micrognathia
  • Low-set ears


SOURCES: OMIM ORPHANET MENDELIAN

More info about X-LINKED DOMINANT CHONDRODYSPLASIA, CHASSAING-LACOMBE TYPE

High match PFEIFFER SYNDROME TYPE 2


Pfeiffer syndrome type 2 (PS2) is a frequent and severe type of Pfeiffer syndrome (PS; see this term), characterized by cloverleaf skull, severe associated functional disorders, and hand/foot and elbow/knee abnormalities.

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hypertelorism
  • Cleft palate


SOURCES: ORPHANET MENDELIAN

More info about PFEIFFER SYNDROME TYPE 2

High match LAURIN-SANDROW SYNDROME


Laurin-Sandrow syndrome (LSS) is characterised by complete polysyndactyly of the hands, mirror feet and nose anomalies (hypoplasia of the nasal alae and short columella), often associated with ulnar and/or fibular duplication (and sometimes tibial agenesis). It has been described in less than 20 cases. Some cases with the same clinical signs but without nasal defects have also been reported, and may represent the same entity. The etiology of LSS is unknown. Different modes of inheritance have been suggested.

LAURIN-SANDROW SYNDROME Is also known as mirror hands and feets-nasal defects syndrome|tmip|mirror-image polydactyly|fibula and ulna, duplication of, with absence of tibia and radius|mip|mirror hands and feet with nasal defects|sandrow syndrome|tetramelic mirror-image polydactyly

Related symptoms:

  • Intellectual disability
  • Hypertelorism
  • Muscular hypotonia
  • Cryptorchidism
  • Talipes equinovarus


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about LAURIN-SANDROW SYNDROME

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Other less relevant matches:

High match ADAMS-OLIVER SYNDROME 2; AOS2


Adams-Oliver syndrome-2 is an autosomal recessive multiple congenital anomaly syndrome characterized by aplasia cutis congenita (ACC) and terminal transverse limb defects, in association with variable involvement of the brain, eyes, and cardiovascular systems (summary by Shaheen et al., 2011).For a discussion of genetic heterogeneity of Adams-Oliver syndrome, see AOS1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about ADAMS-OLIVER SYNDROME 2; AOS2

High match 1Q21.1 MICRODELETION SYNDROME


1q21.1 microdeletion syndrome is a newly described recurrent deletion syndrome with variable clinical manifestations but without the clinical picture of thrombocytopenia - absent radius (TAR) syndrome.

1Q21.1 MICRODELETION SYNDROME Is also known as monosomy 1q21.1|del(1)(q21)

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about 1Q21.1 MICRODELETION SYNDROME

High match MUENKE SYNDROME


Muenke syndrome is a syndromic craniosynostosis with significant phenotypic variability, usually characterized by coronal synostosis, midfacial retrusion, strabismus, hearing loss and developmental delay.

MUENKE SYNDROME Is also known as muenke nonsyndromic coronal craniosynostosis

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Hypertelorism


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about MUENKE SYNDROME

High match SHORT RIB-POLYDACTYLY SYNDROME, BEEMER-LANGER TYPE


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

High match 2Q37 MICRODELETION SYNDROME


Deletion 2q37 or monosomy 2q37 is a chromosomal anomaly involving deletion of chromosome band 2q37 and manifests as three major clinical findings: developmental delay, skeletal malformations and facial dysmorphism.

2Q37 MICRODELETION SYNDROME Is also known as albright hereditary osteodystrophy-like syndrome|del(2)(q37)|monosomy 2q37-qter|brachydactyly-intellectual disability syndrome|albright hereditary osteodystrophy type 3|brachydactyly-mental retardation syndrome|bdmr|deletion 2q37-qter|deletion 2q37

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about 2Q37 MICRODELETION SYNDROME

High match DUBOWITZ SYNDROME


Dubowitz syndrome (DS) is a rare multiple congenital syndrome characterized primarly by growth retardation, microcephaly, distinctive facial dysmorphism, cutaneous eczema, a mild to severe intellectual deficit and genital abnormalities.

Related symptoms:

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


SOURCES: ORPHANET MENDELIAN

More info about DUBOWITZ SYNDROME

High match PETERS PLUS SYNDROME


Peters plus syndrome is an autosomal recessively inherited syndromic developmental defect of the eye (see this term) characterized by a variable phenotype including Peters anomaly (see this term) and other anterior chamber eye anomalies, short limbs, limb abnormalities (i.e. rhizomelia and brachydactyly), characteristic facial features (upper lip with cupid bow, short palpebral fissures), cleft lip/palate, and mild to severe developmental delay/intellectual disability. Other associated abnormalities reported in some patients include congenital heart defects (i.e. hypoplastic left heart, absence of right pulmonary vein, bicuspid pulmonary valve), genitourinary anomalies (hydronephrosis, renal hypoplasia, renal and ureteral duplication, multicystic dysplastic kidneys, glomerulocystic kidneys) and congenital hypothyroidism.

PETERS PLUS SYNDROME Is also known as peters anomaly with short-limb dwarfism|krause-kivlin syndrome|krause-van schooneveld-kivlin syndrome|peters anomaly with short limb dwarfism

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about PETERS PLUS SYNDROME

Top 5 symptoms//phenotypes associated to Hydrocephalus and Short foot

Symptoms // Phenotype % cases
Intellectual disability Very Common - Between 80% and 100% cases
Macrocephaly Common - Between 50% and 80% cases
Hypertelorism Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Intrauterine growth retardation Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Hydrocephalus and Short foot. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Frontal bossing

Uncommon Symptoms - Between 30% and 50% cases


Toe syndactyly

Common Symptoms - More than 50% cases


Global developmental delay

Uncommon Symptoms - Between 30% and 50% cases


Brachydactyly Short stature Short palm Microcephaly Depressed nasal bridge Low-set ears Syndactyly High palate Prominent forehead Hearing impairment Cryptorchidism Inguinal hernia Ventriculomegaly Clinodactyly of the 5th finger Micrognathia Epicanthus Scoliosis Strabismus Wide intermamillary distance Cataract Ptosis Anteverted nares Ventricular septal defect Muscular hypotonia Deeply set eye Talipes equinovarus Protruding ear Single transverse palmar crease Dilatation Wide anterior fontanel Thin vermilion border Abnormal facial shape Generalized hypotonia Low anterior hairline Sensorineural hearing impairment Joint hyperflexibility Attention deficit hyperactivity disorder Abnormal cardiac septum morphology Aplasia/Hypoplasia of the corpus callosum Autistic behavior Hydronephrosis Craniosynostosis Brachycephaly Respiratory insufficiency Agenesis of corpus callosum Microphthalmia Cleft palate Short toe Malar flattening Wide mouth Finger syndactyly Small hand Broad thumb Short nose Abnormality of the skeletal system Growth delay

Rare Symptoms - Less than 30% cases


Long philtrum Sacral dimple Behavioral abnormality Patent ductus arteriosus Wide nasal bridge Feeding difficulties in infancy Conductive hearing impairment Limb undergrowth Thin upper lip vermilion Disproportionate short-limb short stature Short finger Narrow palpebral fissure Bilateral single transverse palmar creases Hyperactivity Umbilical hernia Upslanted palpebral fissure Abnormality of cardiovascular system morphology Bulbous nose Neoplasm Posteriorly rotated ears Blepharophimosis Pectus excavatum Autism Cognitive impairment Clinodactyly Midface retrusion Abnormal heart morphology Myopia Low-set, posteriorly rotated ears Postnatal growth retardation Nystagmus Short metatarsal Multicystic kidney dysplasia Sparse scalp hair Short neck Eczema Cleft upper lip Broad hallux Sleep disturbance Iris coloboma Short metacarpal Polyhydramnios Cleft lip Abnormality of the pinna Round face Spina bifida occulta Joint laxity Aggressive behavior Hypospadias Anxiety Cutis marmorata Depressivity Aqueductal stenosis Broad foot Aplasia/Hypoplasia of the thumb Tarsal synostosis Short middle phalanx of finger Hand polydactyly Preaxial polydactyly Underdeveloped nasal alae Gliosis Downturned corners of mouth Talipes Polydactyly Broad hallux phalanx Preaxial foot polydactyly Laryngomalacia Increased intracranial pressure Intestinal malrotation Limitation of joint mobility Anal atresia High forehead Proptosis Respiratory distress Rhizomelia Depressed nasal ridge Cerebellar hypoplasia Short columella Tracheomalacia Optic atrophy Visual impairment Cerebral atrophy Hypoplasia of the corpus callosum Congenital diaphragmatic hernia Stereotypy Broad-based gait Cerebral cortical atrophy Limited elbow movement Narrow forehead Sparse and thin eyebrow Hypothyroidism Clitoral hypoplasia Rieger anomaly Mesomelic short stature Exaggerated cupid's bow Short phalanx of finger Acute lymphoblastic leukemia Aortic valve stenosis Broad nasal tip Short chin Glaucoma Pyloric stenosis Nephroblastoma Self-injurious behavior Obsessive-compulsive behavior Mild short stature Supernumerary nipple Overweight Severe short stature Low hanging columella Renal neoplasm Broad face Birth length less than 3rd percentile Highly arched eyebrow Hypoplasia of the vagina Hyporeflexia Lobulated tongue Hamartoma of tongue Periportal fibrosis Fetal ascites Pancreatic dysplasia Bowing of the arm Intrahepatic bile duct cysts Absent internal genitalia Agenesis of maxillary lateral incisor Pain Feeding difficulties Hernia Obesity Arrhythmia Bilobate gallbladder Broad columella Coarse facial features Anterior chamber synechiae Intestinal fistula Pes planus Pulmonic stenosis Square pelvis bone Facial hypertrichosis Aplasia/hypoplasia of the extremities Sparse hair Conical incisor Short lingual frenulum Scarring Wide nose Thick vermilion border Subvalvular aortic stenosis Pain insensitivity Abnormal aortic morphology Abnormality of pelvic girdle bone morphology Diastasis recti Abnormality of the fingernails Abnormality of neutrophils Stenosis of the external auditory canal Broad neck Hypoplasia of the uterus Brain atrophy Webbed neck Blurred vision Preauricular pit Rectal prolapse Proximal placement of thumb Sparse lateral eyebrow Horizontal ribs Decreased fetal movement Narrow face Abnormality of the antihelix Renal hypoplasia/aplasia Hypoparathyroidism Intellectual disability, progressive Hemivertebrae Preauricular skin tag Sandal gap Decreased body weight Short palpebral fissure Hypoplastic toenails Metatarsus adductus Delayed cranial suture closure Submucous cleft hard palate Underdeveloped supraorbital ridges Microcornea Chronic diarrhea Anal stenosis Smooth philtrum Self-biting Anemia Abnormality of the pulmonary artery Abnormality of the dentition Recurrent infections Thrombocytopenia Biliary tract abnormality Pes cavus Delayed skeletal maturation Intellectual disability, severe Telecanthus Ureteral duplication Corneal opacity Peters anomaly Micromelia Cutaneous photosensitivity Abnormality of skin pigmentation Abnormality of female external genitalia Fine hair Sloping forehead Lymphoma Asthma Delayed eruption of teeth Hypoplastic labia majora Anterior hypopituitarism Abnormality of thumb phalanx Atrial septal defect Dry skin Malabsorption Retinal coloboma Communicating hydrocephalus Accessory spleen Carpal synostosis Median cleft lip and palate Congenital cataract Blue sclerae Small nail Oligohydramnios Retinal detachment Short distal phalanx of finger Polymicrogyria Muscular hypotonia of the trunk Cerebral palsy Abnormality of the nervous system Alopecia Hypertonia Delayed speech and language development Flexion contracture Spasticity Mirror image polydactyly Lymphedema Dermal atrophy Limb duplication Retinal nonattachment High hypermetropia Schizophrenia Coarctation of aorta Vesicoureteral reflux Joint hypermobility Intellectual disability, moderate Failure to thrive Adactyly Aplasia cutis congenita Cutis marmorata telangiectatica congenita High-pitched cry Retrocerebellar cyst Retinal fold Aplasia cutis congenita of scalp Periventricular leukomalacia Corpus callosum atrophy Fibular duplication Rudimentary to absent tibiae Foot polydactyly Metaphyseal chondrodysplasia Visual loss Hypoplasia of the calcaneus Metaphyseal cupping of proximal phalanges Abnormality of the calcaneus Distal shortening of limbs Metaphyseal cupping of metacarpals Severe platyspondyly 11 pairs of ribs Arnold-Chiari malformation Decreased skull ossification Hypoplastic iliac wing Thin ribs Platyspondyly Short philtrum Hyperkeratosis Intellectual disability, mild Choanal atresia Atresia of the external auditory canal Premature atrial contractions Triphalangeal thumb Absent tibia Patellar aplasia Abnormality of the nose Abnormality of the wrist Absent radius Hallux valgus Preaxial hand polydactyly Abnormality of the metacarpal bones Short hallux Abnormality of the face Heterotopia Prominent nose Postaxial polydactyly Deviation of the thumb Hallux varus Cloverleaf skull Transposition of the great arteries Truncus arteriosus Pancreatic cysts Ascites Holoprosencephaly Short ribs Omphalocele Renal hypoplasia Ambiguous genitalia Dandy-Walker malformation Renal cyst Patent foramen ovale Pulmonary hypoplasia Flat face Oral cleft Narrow chest Splenomegaly Edema Hepatomegaly Short long bone Anophthalmia Low-frequency sensorineural hearing impairment Median cleft lip Cystic renal dysplasia Atelectasis Bifid tongue Thoracic dysplasia Hypoplastic scapulae Single umbilical artery Microglossia Protuberant abdomen Metaphyseal irregularity Anencephaly Hypoplastic nipples Natal tooth Broad palm Milia Short thorax Bowing of the legs Thimble-shaped middle phalanges of hand Unicoronal synostosis Interrupted aortic arch Dental malocclusion Hypopigmented skin patches Acanthosis nigricans Plagiocephaly Bradycardia Epidermal acanthosis Bilateral sensorineural hearing impairment Febrile seizures Hypopigmentation of the skin Cone-shaped epiphysis High, narrow palate Apnea Dysphagia Downslanted palpebral fissures Hyperreflexia Hypertension Ankyloglossia Trigonocephaly Radial deviation of finger Short middle phalanx of toe Abnormality of the head Bicoronal synostosis Capitate-hamate fusion Synostosis of carpals/tarsals Hemimegalencephaly Craniofacial asymmetry Parietal foramina Lambdoidal craniosynostosis Anterior plagiocephaly Tracheoesophageal fistula Oxycephaly Upper airway obstruction Cone-shaped epiphyses of the phalanges of the hand Coronal craniosynostosis Esophageal atresia Hypopigmentation of hair Hypermelanotic macule Microtia, second degree



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