Abnormal facial shape, and Hypospadias

Diseases related with Abnormal facial shape and Hypospadias

In the following list you will find some of the most common rare diseases related to Abnormal facial shape and Hypospadias that can help you solving undiagnosed cases.


Top matches:

Low match ENDOCRINE-CEREBRO-OSTEODYSPLASIA SYNDROME


Endocrine-cerebro-osteodysplasia (ECO) syndrome is characterized by various anomalies of the endocrine, cerebral, and skeletal systems resulting in neonatal mortality.

ENDOCRINE-CEREBRO-OSTEODYSPLASIA SYNDROME Is also known as eco syndrome

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about ENDOCRINE-CEREBRO-OSTEODYSPLASIA SYNDROME

Low match GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES; GRDF


Related symptoms:

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Cryptorchidism
  • Low-set ears


SOURCES: OMIM MENDELIAN

More info about GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES; GRDF

Low match IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 3; ICF3


Immunodeficiency-centromeric instability-facial anomalies syndrome-3 is an autosomal recessive disorder characterized by recurrent infections in childhood and variable dysmorphic facial features. Laboratory studies show hypomethylation of certain chromosomal regions. Additional features, including delayed development, are variable (summary by Thijssen et al., 2015).For a discussion of genetic heterogeneity of immunodeficiency-centromeric instability-facial anomalies syndrome, see ICF1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hearing impairment
  • Microcephaly
  • Scoliosis


SOURCES: OMIM MENDELIAN

More info about IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 3; ICF3

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Other less relevant matches:

Low match MENTAL RETARDATION, AUTOSOMAL RECESSIVE 65; MRT65


Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Strabismus
  • Abnormal facial shape


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL RECESSIVE 65; MRT65

Low match COLOBOMATOUS MICROPHTHALMIA-RHIZOMELIC DYSPLASIA SYNDROME


Colobomatous microphthalmia-rhizomelic dysplasia syndrome is a rare, genetic developmental defect during embryogenesis characterized by a range of developmental eye anomalies (including anophthalmia, microphthalmia, colobomas, microcornea, corectopia, cataract) and symmetric limb rhizomelia with short stature and contractures of large joints. Intellectual disability with autistic features, macrocephaly, dysmorphic features, urogenital anomalies (hypospadia, cryptorchidism), cutaneous syndactyly and precocious puberty may also be present.

COLOBOMATOUS MICROPHTHALMIA-RHIZOMELIC DYSPLASIA SYNDROME Is also known as microphthalmia or coloboma with or without rhizomelic skeletal dysplasia|microphthalmia, syndromic 14|microphthalmia-coloboma-rhizomelic skeletal dysplasia|mcops14

Related symptoms:

  • Intellectual disability
  • Nystagmus
  • Strabismus
  • Abnormal facial shape
  • Cataract


SOURCES: OMIM ORPHANET MENDELIAN

More info about COLOBOMATOUS MICROPHTHALMIA-RHIZOMELIC DYSPLASIA SYNDROME

Low match STANKIEWICZ-ISIDOR SYNDROME; STISS


Stankiewicz-Isidor syndrome (STISS) is a neurodevelopmental disorder characterized by delayed psychomotor development, intellectual disability, behavioral disorders, mild craniofacial anomalies, and variable congenital defects of the cardiac and/or urogenital systems (summary by Kury et al., 2017).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM MENDELIAN

More info about STANKIEWICZ-ISIDOR SYNDROME; STISS

Low match CONGENITAL CATARACT-MICROCEPHALY-NEVUS FLAMMEUS SIMPLEX-SEVERE INTELLECTUAL DISABILITY SYNDROME


Basel-Vanagaite-Smirin-Yosef syndrome is an autosomal recessive multiple congenital anomaly disorder characterized by severely delayed psychomotor development resulting in mental retardation, as well as variable eye, brain, cardiac, and palatal abnormalities (summary by Basel-Vanagaite et al., 2015).

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about CONGENITAL CATARACT-MICROCEPHALY-NEVUS FLAMMEUS SIMPLEX-SEVERE INTELLECTUAL DISABILITY SYNDROME

Low match IMAGE SYNDROME


IMAGe syndrome is characterized by the association of Intrauterine growth retardation, Metaphyseal dysplasia (and short limbs), Adrenal hypoplasia congenita, and Genital anomalies. It has been described in less than 20 cases. The patients also present with dysmorphic features (frontal bossing, broad nasal bridge, low-set ears). In boys, genital anomalies include bilateral cryptorchidism, hypospadias, micropenis, and hypogonadotropic hypogonadism. This syndrome is likely to be transmitted as an autosomal recessive trait.

IMAGE SYNDROME Is also known as intrauterine growth retardation-metaphyseal dysplasia-adrenal hypoplasia congenita-genital anomalies syndrome|image syndrome

Related symptoms:

  • Global developmental delay
  • Hearing impairment
  • Scoliosis
  • Growth delay
  • Sensorineural hearing impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about IMAGE SYNDROME

Top 5 symptoms//phenotypes associated to Abnormal facial shape and Hypospadias

Symptoms // Phenotype % cases
Global developmental delay Common - Between 50% and 80% cases
Cryptorchidism Common - Between 50% and 80% cases
Low-set ears Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Strabismus Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Abnormal facial shape and Hypospadias. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Generalized hypotonia Seizures Hearing impairment Macrocephaly Feeding difficulties Hypertelorism Microcephaly Ventriculomegaly Micropenis Growth delay Cleft palate Epicanthus Intrauterine growth retardation Prominent forehead Hypoplasia of the corpus callosum Downslanted palpebral fissures Scoliosis

Rare Symptoms - Less than 30% cases


Respiratory tract infection Small hand Short nose Recurrent infections Prominent nasal bridge Muscular hypotonia Tented upper lip vermilion Abnormal cardiac septum morphology Hydronephrosis Behavioral abnormality Visual impairment Delayed speech and language development Everted lower lip vermilion Absent speech Sensorineural hearing impairment Long eyelashes Microcornea Pes planus Cataract Nystagmus Low hanging columella Ptosis Feeding difficulties in infancy Micrognathia Retrognathia Frontal bossing Adrenal hypoplasia Deeply set eye Sandal gap Syndactyly Ambiguous genitalia Abnormality of the pinna Short stature Motor delay Flexion contracture Abnormality of the skeletal system Micromelia Delayed skeletal maturation Patent ductus arteriosus Polydactyly Hyperactivity Encephalopathy Narrow mouth Hypercalcemia Hypercalciuria Upslanted palpebral fissure High forehead Posteriorly rotated ears Clinodactyly Short long bone Sparse eyebrow Epiphyseal dysplasia Sparse hair Pineal cyst Spasticity Kyphosis Dilatation Metaphyseal cupping Primary adrenal insufficiency Metaphyseal dysplasia Long philtrum Adrenal insufficiency Short philtrum Congenital cataract Nevus Bilateral cryptorchidism Hypermetropia Nevus flammeus Microtia Tapered finger Long face Cerebellar vermis hypoplasia Craniosynostosis Postnatal growth retardation Hypogonadism Shawl scrotum Depressed nasal bridge Dysgenesis of the cerebellar vermis Open mouth Muscular dystrophy Stereotypy Long palpebral fissure Enlarged cisterna magna Dilation of lateral ventricles Dilated fourth ventricle Cerebellar dysplasia Eczema Highly arched eyebrow Downturned corners of mouth High anterior hairline Thick vermilion border Short foot Nephrocalcinosis Epileptic encephalopathy Plagiocephaly Delayed ability to walk Hypocalcemia Polymicrogyria Short attention span Abnormality of the genital system Tented philtrum Bilateral sensorineural hearing impairment Growth hormone deficiency Anteverted nares Cerebellar hypoplasia Truncus arteriosus Skeletal dysplasia Absent thumb Melanocytic nevus Ulnar deviation of the hand or of fingers of the hand Triangular face Decreased body weight Finger clinodactyly Relative macrocephaly Pterygium Unilateral cryptorchidism Ulnar deviation of the hand Penoscrotal hypospadias Immunodeficiency Conductive hearing impairment Flat face Decreased antibody level in blood Recurrent upper respiratory tract infections Microphallus Shield chest Tapetoretinal degeneration Cleft lip Brachydactyly Wide nasal bridge Hydrocephalus Malar flattening Midface retrusion Agenesis of corpus callosum Cleft upper lip Barrel-shaped chest Oral cleft Postaxial polydactyly Wide intermamillary distance Holoprosencephaly Aplasia/Hypoplasia of the corpus callosum Scrotal hypoplasia Depressed nasal tip Agammaglobulinemia Hypoplastic ischia Horizontal nystagmus Periorbital fullness Deep philtrum Precocious puberty Chorioretinal coloboma Anophthalmia Sclerocornea Ectopia pupillae Monocular strabismus Rhizomelia Autism Abnormality of the kidney Facial asymmetry Prominent nose Short thumb Cerebral visual impairment Knee flexion contracture Retinal detachment Myopia Astigmatism Atrial septal defect Hernia Inguinal hernia Camptodactyly Dolichocephaly Smooth philtrum Thin vermilion border Coloboma Bulbous nose Supernumerary nipple Prominent metopic ridge Square face Microphthalmia Pes cavus Intellectual disability, moderate Congenital adrenal hypoplasia



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