Cryptorchidism, and Hypotrichosis

Diseases related with Cryptorchidism and Hypotrichosis

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


Top matches:

High match ECTODERMAL DYSPLASIA 9, HAIR/NAIL TYPE; ECTD9


Some ectodermal dysplasias are here classified as congenital disorders characterized by abnormal development in 2 or more ectodermal structures (hair, nails, teeth, and sweat glands) without other systemic findings.Ectodermal dysplasia of the hair/nail type is a rare congenital condition characterized by hypotrichosis and nail dystrophy without nonectodermal or other ectodermal manifestations. Hypotrichosis usually occurs after birth with varying degrees of severity, ranging from mild hair loss to complete atrichia, including the loss of scalp hair, beard, eyebrows, eyelashes, axillary hair, and pubic hair. Nail dystrophy affects all 20 digits by causing short fragile nails or spoon nails (koilonychia) (summary by Lin et al., 2012).

Related symptoms:

  • Cryptorchidism
  • Hernia
  • Inguinal hernia
  • Alopecia
  • Nail dystrophy


SOURCES: OMIM MENDELIAN

More info about ECTODERMAL DYSPLASIA 9, HAIR/NAIL TYPE; ECTD9

Medium match BRESEK SYNDROME


X-linked mental retardation, Reish type is characterised by Brain anomalies, severe mental Retardation, Ectodermal dysplasia, Skeletal deformities (vertebral anomalies, scoliosis, polydactyly), Ear/eye anomalies (maldevelopment, small optic nerves, low set and large ears with hearing loss) and Kidney dysplasia/hypoplasia (giving the acronym BRESEK syndrome).

BRESEK SYNDROME Is also known as bresheck syndrome

Related symptoms:

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


SOURCES: MESH ORPHANET MENDELIAN

More info about BRESEK SYNDROME

Medium match INTELLECTUAL DISABILITY-SPARSE HAIR-BRACHYDACTYLY SYNDROME


Intellectual disability-sparse hair-brachydactyly syndrome is a very rare condition of unknown etiology consisting of short stature, hypotrichosis, brachydactyly with cone-shaped epiphyses, epilepsy and severe mental delay. After the initial delineation of this syndrome by Nicolaides and Baraitser in 1993, only five more patients were published in the literature up to now.

INTELLECTUAL DISABILITY-SPARSE HAIR-BRACHYDACTYLY SYNDROME Is also known as sparse hair and mental retardation|nbs|nicolaides-baraitser syndrome

Related symptoms:

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


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about INTELLECTUAL DISABILITY-SPARSE HAIR-BRACHYDACTYLY SYNDROME

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Other less relevant matches:

Medium match ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS


Encephalocraniocutaneous lipomatosis (ECCL) is a neurocutaneous disorder characterized by ocular anomalies, skin lesions, and central nervous system (CNS) anomalies (Moog et al., 2007).The malformations in ECCL are patchy and asymmetric. The most characteristic skin anomaly is nevus psiloliparus, a well-demarcated, alopecic fatty tissue nevus on the scalp, seen in 80% of affected individuals. Other dermatologic features include frontotemporal or zygomatic subcutaneous fatty lipomas, non-scarring alopecia, focal dermal hypoplasia or aplasia of the scalp, periocular skin tags, and pigmentary abnormalities following the lines of Blaschko. Choristomas of the eye (epibulbar dermoids or lipodermoids) are also present in 80% of patients, and can be unilateral or bilateral. Characteristic CNS features in ECCL include intracranial and intraspinal lipomas, seen in 61% of patients, and less often cerebral asymmetry, arachnoid cysts, enlarged ventricles, and leptomeningeal angiomatosis. A predisposition to low-grade gliomas has also been observed. Seizures and intellectual disability are common, but one-third of affected individuals have normal intellect. Skeletal manifestations include bone cysts and jaw tumors, such as odontomas, osteomas, and ossifying fibromas (summary by Bennett et al., 2016).

ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS Is also known as haberland syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Neoplasm
  • Failure to thrive


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS

Medium match JOHANSON-BLIZZARD SYNDROME


Johanson-Blizzard syndrome (JBS) is a multiple congenital anomaly characterized by exocrine pancreatic insufficiency, hypoplasia/aplasia of the nasal alae, hypodontia, sensorineural hearing loss, growth retardation, anal and urogenital malformations, and variable intellectual disability.

JOHANSON-BLIZZARD SYNDROME Is also known as jbs|nasal alar hypoplasia, hypothyroidism, pancreatic achylia, and congenital deafness

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about JOHANSON-BLIZZARD SYNDROME

Medium match FRONTONASAL DYSPLASIA 1; FND1


The term frontonasal dysplasia was coined by Sedano et al. (1970) to describe a constellation of findings limited to the face and head. The disorder is defined as 2 or more of the following: (1) true ocular hypertelorism; (2) broadening of the nasal root; (3) median facial cleft affecting the nose and/or upper lip and palate; (4) unilateral or bilateral clefting of the alae nasi; (5) lack of formation of the nasal tip; (6) anterior cranium bifidum occultum (see {168500}); and (7) a V-shaped or widow's peak frontal hairline (Sedano and Gorlin, 1988). Most reported cases are sporadic, but a few familial cases have been reported.Twigg et al. (2009) characterized frontonasal malformation (FNM) as a 'very heterogeneous group of disorders' and summarized clinical features.Also see acromelic frontonasal dysplasia (AFND ), frontofacionasal dysplasia (FFND ), oculoauriculofrontonasal syndrome (OAFNS ), the acrofrontofacionasal dysostosis syndromes ({201180}, {239710}), and craniofrontonasal syndrome (OMIM ). Genetic Heterogeneity of Frontonasal DysplasiaFrontonasal dysplasia-2 (FND2 ) is caused by mutation in the ALX4 gene (OMIM ) on chromosome 11p11. Frontonasal dysplasia-3 (FND3 ) is caused by mutation in the ALX1 gene (OMIM ) on chromosome 12q21.

FRONTONASAL DYSPLASIA 1; FND1 Is also known as frontonasal malformation|fnm|frontonasal dysplasia|median facial cleft syndrome|frontorhiny|fnd

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about FRONTONASAL DYSPLASIA 1; FND1

Medium match ROBERTS SYNDROME


Roberts syndrome (RBS) is characterized by pre- and postnatal growth retardation, severe symmetric limb reduction defects, craniofacial anomalies and severe intellectual deficit. SC phocomelia is a milder form of RBS.

ROBERTS SYNDROME Is also known as pseudothalidomide syndrome|roberts-sc phocomelia syndrome|sc pseudothalidomide syndrome|sc phocomelia

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about ROBERTS SYNDROME

Medium match ICHTHYOSIS FOLLICULARIS-ALOPECIA-PHOTOPHOBIA 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

Medium match NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR


Noonan-like syndrome with loose anagen hair (NS/LAH) is a Noonan-related syndrome, characterized by facial anomalies suggestive of Noonan syndrome (see this term); a distinctive hair anomaly described as loose anagen hair syndrome (see this term); frequent congenital heart defects; distinctive skin features with darkly pigmented skin, keratosis pilaris, eczema or occasional neonatal ichtyosis (see this term); and short stature, often associated with a GH deficiency and psychomotor delays.

NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR Is also known as ns/lah|tosti syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR

Medium match NOONAN SYNDROME 1; NS1


Noonan syndrome (NS) is an autosomal dominant disorder characterized by short stature, facial dysmorphism, and a wide spectrum of congenital heart defects. The distinctive facial features consist of a broad forehead, hypertelorism, downslanting palpebral fissures, a high-arched palate, and low-set, posteriorly rotated ears. Cardiac involvement is present in up to 90% of patients. Pulmonic stenosis and hypertrophic cardiomyopathy are the most common forms of cardiac disease, but a variety of other lesions are also observed. Additional relatively frequent features include multiple skeletal defects (chest and spine deformities), webbed neck, mental retardation, cryptorchidism, and bleeding diathesis (summary by Tartaglia et al., 2002). Genetic Heterogeneity of Noonan SyndromeSee also NS3 (OMIM ), caused by mutation in the KRAS gene (OMIM ); NS4 (OMIM ), caused by mutation in the SOS1 gene (OMIM ); NS5 (OMIM ), caused by mutation in the RAF1 gene (OMIM ); NS6 (OMIM ), caused by mutation in the NRAS gene (OMIM ); NS7 (OMIM ), caused by mutation in the BRAF gene (OMIM ); NS8 (OMIM ), caused by mutation in the RIT1 gene (OMIM ); NS9 (OMIM ), caused by mutation in the SOS2 gene (OMIM ); and NS10 (OMIM ), caused by mutation in the LZTR1 gene (OMIM ).See also NS2 (OMIM ) for a possible autosomal recessive form of NS; Noonan syndrome-like disorder with loose anagen hair-1 (NSLH1 ), caused by mutation in the SHOC2 gene (OMIM ); Noonan syndrome-like disorder with loose anagen hair-2 (NSLH2 ), caused by mutation in the PPP1CB gene (OMIM ); and Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia (NSLL ), caused by mutation in the CBL gene (OMIM ).Mutations in the neurofibromin gene (NF1 ), which is the site of mutations causing classic neurofibromatosis type I (NF1 ), have been found in neurofibromatosis-Noonan syndrome (NFNS ).

NOONAN SYNDROME 1; NS1 Is also known as female pseudo-turner syndrome|male turner syndrome|noonan syndrome|turner phenotype with normal karyotype

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about NOONAN SYNDROME 1; NS1

Top 5 symptoms//phenotypes associated to Cryptorchidism and Hypotrichosis

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Growth delay Common - Between 50% and 80% cases
Alopecia Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Cryptorchidism and Hypotrichosis. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Microcephaly

Uncommon Symptoms - Between 30% and 50% cases


Abnormality of cardiovascular system morphology

Common Symptoms - More than 50% cases


Intrauterine growth retardation

Uncommon Symptoms - Between 30% and 50% cases


Dilatation Microphthalmia Seizures Failure to thrive Hearing impairment Scoliosis Brachydactyly Atrial septal defect Postnatal growth retardation Hypertelorism Feeding difficulties Downslanted palpebral fissures Ventricular septal defect Strabismus Delayed skeletal maturation Sparse hair Nystagmus Cleft palate Low-set ears Hydrocephalus Intellectual disability, severe Hernia Short neck High palate Ventriculomegaly Posteriorly rotated ears Agenesis of corpus callosum Macrocephaly Neoplasm Sparse scalp hair Eczema Wide intermamillary distance High, narrow palate Micrognathia Hydronephrosis Radial deviation of finger Craniosynostosis Clinodactyly Cataract Corneal opacity Dandy-Walker malformation Coarctation of aorta Cardiomyopathy Epicanthus Abnormal heart morphology Hypothyroidism Ptosis Growth hormone deficiency Underdeveloped nasal alae Intellectual disability, mild Brachycephaly Abnormal facial shape Severe short stature Long philtrum Plagiocephaly Ichthyosis Anteverted nares Generalized hypotonia Postaxial hand polydactyly

Rare Symptoms - Less than 30% cases


Micropenis Ventricular hypertrophy Webbed neck Aganglionic megacolon Optic nerve hypoplasia Sensorineural hearing impairment Muscular hypotonia Pulmonic stenosis Cognitive impairment Clinodactyly of the 5th finger Edema Hypertrophic cardiomyopathy Hemivertebrae Low-set, posteriorly rotated ears Renal dysplasia Upslanted palpebral fissure Opacification of the corneal stroma Abnormal nasolacrimal system morphology Low posterior hairline Abnormal eyelash morphology Abnormality of the face Superior pectus carinatum Aortic valve stenosis Hemangioma Multiple lipomas Absent septum pellucidum Lipoma Capillary hemangioma Arnold-Chiari malformation Arnold-Chiari type I malformation Abnormal eyelid morphology Subvalvular aortic stenosis Peripheral pulmonary artery stenosis Failure to thrive in infancy Patent foramen ovale Subcortical cerebral atrophy Cleft lip Gastroesophageal reflux Patent ductus arteriosus Abnormal cardiac septum morphology Pain Oligohydramnios Lymphedema Fragile nails Umbilical hernia Macrotia Alopecia totalis Myopia Abnormality of the genital system Flexion contracture Talipes Ectodermal dysplasia Nail dystrophy Congestive heart failure Thrombocytopenia Inguinal hernia Proptosis Polyhydramnios Retrognathia Postaxial polydactyly Camptodactyly Loose anagen hair Hydroureter Pectus excavatum Vomiting Hypoplasia of the maxilla Abdominal distention Cafe-au-lait spot Abnormality of the nail Hypocalcemia Clitoral hypertrophy Facial cleft Polydactyly Fair hair Calvarial skull defect Abnormality of the vertebral column Decreased testicular size Convex nasal ridge Iris coloboma Depressed nasal bridge Frontal bossing Hypogonadism Hemiparesis Short nose Hypoplasia of the bladder Aphasia Thin vermilion border Mutism Wide nose Overfolded helix Hypoplasia of the corpus callosum Absent eyebrow Thick lower lip vermilion Delayed speech and language development Dysphasia Cerebral cortical atrophy Specific learning disability Echolalia Triangular face Broad nasal tip Abnormal hair pattern Abnormality of the testis Broad philtrum Broad columella Cerebellar hypoplasia Long eyelashes Small for gestational age Widely spaced teeth Paralysis Papule Sandal gap Coloboma Scarring Abnormality of dental enamel Brain atrophy Bifid scrotum Epidermal acanthosis Abnormality of the ribs Multiple lentigines Nail dysplasia Asymmetry of the thorax Keratitis Intestinal obstruction Palmoplantar keratoderma Mixed hearing impairment Drusen Congenital ichthyosiform erythroderma Pulmonary hypoplasia Atonic seizures Optic disc hypoplasia Dry skin Unilateral renal agenesis Erythroderma Choanal atresia Multicystic kidney dysplasia Nonimmune hydrops fetalis Atrial flutter Recurrent bacterial infections Abnormality of the hand Urticaria Restrictive cardiomyopathy Scaling skin Shield chest Platyspondyly Conjunctivitis Abnormality of the hair Synovitis Abnormal vertebral morphology Hypohidrosis Hypoplasia of dental enamel Omphalocele Schwannoma Psoriasiform dermatitis Astigmatism Hypoplastic aortic arch Lymphangioma Preductal coarctation of the aorta Long penis Patellar aplasia Neurofibrosarcoma Panuveitis Juvenile myelomonocytic leukemia Pectus excavatum of inferior sternum Abnormality of the upper limb Gonadal neoplasm Reduced factor XIII activity Low hanging columella Nasogastric tube feeding Upper limb undergrowth Humeroradial synostosis Severe intrauterine growth retardation External ear malformation Synostosis of carpal bones Underdeveloped supraorbital ridges Absent radius Hip contracture Aplasia/Hypoplasia of the thumb Absent thumb Short femoral neck Proximal placement of thumb Radioulnar synostosis Polycystic kidney dysplasia Phocomelia Wrist flexion contracture Hip dislocation Recurrent infections Camptodactyly of finger Erythema Respiratory tract infection Developmental regression Abnormality of the kidney Oligodactyly Mental deterioration Photophobia Hyperkeratosis Hyperhidrosis Dementia Recurrent respiratory infections Immunodeficiency Aplasia of the ulna Kyphosis Respiratory distress Amegakaryocytic thrombocytopenia Reduced factor XII activity Premature separation of centromeric heterochromatin Midface capillary hemangioma Tetraphocomelia Mesomelic arm shortening Progressive flexion contractures Absent earlobe Facial hemangioma Complete duplication of thumb phalanx Ectrodactyly Follicular hyperkeratosis Submucous cleft hard palate Bruising susceptibility Right bundle branch block Broad forehead Leukemia Hypoplastic toenails Facial asymmetry Nasal speech Deep philtrum Relative macrocephaly Coarse hair Increased intracranial pressure Abnormal bleeding Abnormality of coagulation Infantile muscular hypotonia Abnormal palate morphology Abnormality of the fingernails Hoarse voice Hyperpigmentation of the skin Thin skin Mitral regurgitation Dental malocclusion Amenorrhea Cyanosis Primary amenorrhea Aplasia/Hypoplasia of the eyebrow Neurodevelopmental delay Clumsiness Abnormality of refraction Broad fingertip Fever Abnormal location of ears Splenomegaly Headache Constipation Abnormality of the intervertebral disk Dermal translucency Abnormality of the pulmonary artery Thickened helices Slow-growing hair Redundant neck skin Freckling Enlarged cisterna magna Abnormally large globe Rod-cone dystrophy Hypomagnesemia Abdominal pain Hiatus hernia Abnormality of the elbow Broad neck Kyphoscoliosis Atopic dermatitis Natal tooth Joint hypermobility Left ventricular hypertrophy Uveitis Thin eyebrow Episcleritis Male infertility Hyperconvex fingernails Neuroblastoma Abnormality of temperature regulation Corneal scarring Abnormality of the upper urinary tract Cheilitis Alopecia universalis Oxycephaly Abnormality of blood and blood-forming tissues Olivopontocerebellar atrophy Cerebral cortical hemiatrophy Recurrent corneal erosions Hypoplastic fingernail Heat intolerance Abnormality of the nasal bridge Corneal erosion Absent eyelashes Blepharitis Alopecia of scalp Gonadal dysgenesis Malignant hyperthermia Parakeratosis Paronychia Scleritis Amblyopia Cubitus valgus Azoospermia Carious teeth Bicuspid aortic valve Dolichocephaly Pectus carinatum Poor suck Pterygium Attention deficit hyperactivity disorder Hypoplasia of the radius Elevated alkaline phosphatase Myelodysplasia Hypoglycemia Thin fingernail Abnormality of the coagulation cascade Leukocytosis High forehead Abnormality of color vision Hyperactivity Prominent forehead Neurofibromas Unilateral chest hypoplasia Ichthyosis follicularis Cystic hygroma Abnormal pelvis bone morphology Autistic behavior Median cleft lip Melanoma Nevus flammeus Craniofacial hyperostosis Astrocytoma Xanthomatosis Hemihypertrophy Ectopia pupillae Dysostosis multiplex Eyelid coloboma Skin tags Sclerocornea Abnormality of the skull Arachnoid cyst Hypoplasia of the iris Porencephalic cyst Aplasia cutis congenita Hamartoma Cortical dysplasia Lipodystrophy Hemiplegia Sacral dimple Osteolysis Muscle stiffness Subcutaneous nodule Pulmonary arterial hypertension Intellectual disability, profound Abnormality of brain morphology Bone cyst Interrupted aortic arch Nevus Osteochondrosis Elevated hepatic transaminase Diabetes mellitus Hypospadias Abnormality of the dentition Fatigue Hepatomegaly Hypertension Anemia Lipomas of the central neryous system Abnormal cartilage morphology Linear hyperpigmentation Odontoma Glioma Neurodevelopmental abnormality Neoplasm of the skeletal system Pelvic kidney Chorioretinitis Hemiatrophy Subcutaneous lipoma Tricuspid valve prolapse Epibulbar dermoid Abnormal anterior chamber morphology Alopecia areata Abnormal aortic morphology Visceral angiomatosis Cerebral calcification Tetraplegia Abnormality of the liver Autism Drooling Accelerated skeletal maturation Narrow palpebral fissure Joint dislocation Absence seizures Low anterior hairline Abnormality of epiphysis morphology Short phalanx of finger Broad-based gait Short palpebral fissure Status epilepticus Coarse facial features Short metatarsal Short metacarpal Full cheeks Highly arched eyebrow Everted lower lip vermilion Deeply set eye Short palm Thick eyebrow Smooth philtrum Poor speech Synophrys Blepharophimosis Aggressive behavior Abnormality of the metacarpal bones Cone-shaped epiphysis Neurological speech impairment Unilateral narrow palpebral fissure Retinopathy Rigidity Skeletal dysplasia Cerebral atrophy Behavioral abnormality Hypertonia Absent speech Obesity Spasticity Osteoporosis Prominent proximal interphalangeal joints Prominent interphalangeal joints Narrow nasal bridge Prominent eyelashes Curly eyelashes Clubbing of toes Thick nasal alae Excessive wrinkled skin Broad distal phalanx of finger Eclabion Wide nasal base Enlarged joints Abnormality of finger Epileptic spasms Protruding tongue Joint laxity Dilated cardiomyopathy Wormian bones Diabetes insipidus Bifid nasal tip Conical tooth Preaxial foot polydactyly Widow's peak Short columella Coronal craniosynostosis Meningocele Wide mouth Occipital encephalocele Partial agenesis of the corpus callosum Adrenal insufficiency Anophthalmia Bifid nose Preaxial polydactyly Easy fatigability Scrotal hypoplasia Joint contracture of the hand Preauricular skin tag Heterotopia Encephalocele Fine hair Tetralogy of Fallot Postural instability Oral cleft Concave nail Agenesis of cerebellar vermis Parietal foramina Telecanthus Prominent nasal bridge Knee flexion contracture Bilateral single transverse palmar creases Short thumb Bowing of the long bones Myocardial infarction Blue sclerae Premature birth Chest pain Falls Cleft upper lip Finger syndactyly Glaucoma Median cleft palate Malar flattening Anterior basal encephalocele Midline facial cleft Pectoral muscle hypoplasia/aplasia Frontal cutaneous lipoma Lipoma of corpus callosum Cranium bifidum occultum Morning glory anomaly Scleral staphyloma Widely-spaced maxillary central incisors Hypoplastic frontal sinuses Absent tibia Intellectual disability, moderate Conductive hearing impairment Malabsorption Hyperbilirubinemia Hypopituitarism Anteriorly placed anus Glycosuria Agenesis of permanent teeth Steatorrhea Dextrocardia Congenital sensorineural hearing impairment Portal hypertension Abnormality of the genitourinary system Oligodontia Severe muscular hypotonia Pointed chin Anal stenosis Situs inversus totalis Cholestasis Hypoplasia of penis Microdontia Renal hypoplasia Intestinal malrotation Generalized muscle weakness Delayed eruption of teeth Single transverse palmar crease Downturned corners of mouth Hepatic failure Anal atresia Hypoplastic nipples Exocrine pancreatic insufficiency Unilateral cryptorchidism Anasarca Protruding ear Talipes equinovarus Abnormality of the skeletal system Wide nasal bridge Motor delay Vesicoureteral reflux Midline skin dimples over anterior/posterior fontanelles Hypoplasia of the primary teeth Urethrovaginal fistula Abnormality of the female genitalia Malrotation of small bowel Septate vagina Hypoproteinemia Absent lacrimal punctum Increased VLDL cholesterol concentration Colonic diverticula Abnormality of the nares Uterus didelphys Frontal upsweep of hair Skin dimples Aplasia cutis congenita of scalp Abnormal vagina morphology Lacrimation abnormality Abnormality of the pancreas Rectovaginal fistula Postductal coarctation of the aorta



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